[Term]
id: PR:000037678
name: presenilin-1 sequence variant P267S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-267 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-267, CHEBI:29999." [Alzforum:KD, PMID:7550356, PMID:8733749, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P267S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-267, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006445
xref: Alzforum_mut:psen1-p267s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037729
name: presenilin-1 sequence variant L424V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:30015." [Alzforum:KD, PMID:19001354, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L424V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-424, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l424v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037671
name: presenilin-1 sequence variant V261F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Val-261 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-261, CHEBI:29997." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V261F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-261, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075270
xref: Alzforum_mut:psen1-v261f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037670
name: presenilin-1 sequence variant A260V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-260 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-260, CHEBI:30015." [Alzforum:KD, PMID:7651536, PMID:9007097, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A260V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-260, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006441
xref: Alzforum_mut:psen1-a260v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037673
name: presenilin-1 sequence variant L262F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-262 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-262, CHEBI:29997." [Alzforum:KD, PMID:9347932, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L262F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-262, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006442
xref: Alzforum_mut:psen1-l262f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037672
name: presenilin-1 sequence variant V261L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-261 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-261, CHEBI:30006." [Alzforum:KD, PMID:18637955, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V261L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-261, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-v261l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037675
name: presenilin-1 sequence variant C263F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Cys-263 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-263, CHEBI:29997." [Alzforum:KD, PMID:12552037, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:C263F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Cys-263, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-c263f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037674
name: presenilin-1 sequence variant C263R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Cys-263 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-263, CHEBI:29952." [Alzforum:KD, PMID:7585193, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:C263R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Cys-263, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006443
xref: Alzforum_mut:psen1-c263r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037677
name: presenilin-1 sequence variant G266S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Gly-266 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-266, CHEBI:29999." [Alzforum:KD, PMID:11920851, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G266S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-266, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_016219
xref: Alzforum_mut:psen1-g266s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037676
name: presenilin-1 sequence variant P264L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-264 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-264, CHEBI:30006." [Alzforum:KD, PMID:7585193, PMID:8634712, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P264L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-264, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006444
xref: Alzforum_mut:psen1-p264l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037727
name: presenilin-1 sequence variant L424R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29952." [Alzforum:KD, PMID:10337065, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L424R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-424, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l424r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037726
name: presenilin-1 sequence variant L424H (human)
def: "A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29979." [Alzforum:KD, PMID:16033913, PMID:16546171, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L424H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-424, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l424h
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044556
name: presenilin-1 sequence variant N135Y (human)
def: "A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:46858." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:N135Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Asn-135, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-n135y
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044557
name: presenilin-1 sequence variant P267A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Pro-267 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-267, CHEBI:46217." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P267A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-267, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-p267a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000039604
name: presenilin-1 isoform 1
def: "A presenilin-1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-1 or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=sequence.
synonym: "PSEN1/iso:1" EXACT PRO-short-label [PRO:DNx]
is_a: PR:000013344 ! presenilin-1

[Term]
id: PR:000037717
name: presenilin-1 sequence variant L392V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-392 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-392, CHEBI:30015." [Alzforum:KD, PMID:10441572, PMID:7651536, PMID:7824141, PMID:8634712, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L392V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-392, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006457
xref: Alzforum_mut:psen1-l392v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044554
name: presenilin-1 sequence variant H214N (human)
def: "A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:50347." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:H214N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, His-214, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-h214n
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044555
name: presenilin-1 sequence variant I408T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-408 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-408, CHEBI:30013." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I408T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-408, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075277
xref: Alzforum_mut:psen1-i408t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044552
name: presenilin-1 sequence variant F388L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-388 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-388, CHEBI:30006." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F388L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-388, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f388l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045474
name: presenilin-1 sequence variant A396T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-396 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-396, CHEBI:30013." [Alzforum:KD, PMID:22503161, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A396T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-396, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_070026
xref: Alzforum_mut:psen1-a396t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000013344
name: presenilin-1
def: "A protein that is a translation product of the human PSEN1 gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene. Requested by=Alzforum.
synonym: "AD3" RELATED Gene-based []
synonym: "PS1" RELATED Gene-based []
synonym: "Ad3h" RELATED Gene-based []
synonym: "PS-1" EXACT []
synonym: "PSEN1" EXACT PRO-short-label [PRO:DNx]
synonym: "PSNL1" RELATED Gene-based []
synonym: "protein S182" EXACT []
xref: IUPHARobj:2402
is_a: PR:000000001 ! protein

[Term]
id: PR:000045472
name: presenilin-1 sequence variant R377W (human)
def: "A presenilin-1 sequence variant (human) that has a Trp residue at the position equivalent to Arg-377 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-377, CHEBI:29954." [Alzforum:KD, PMID:21822699, PMID:22475797, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R377W" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-377, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-r377w
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045473
name: presenilin-1 sequence variant S390N (human)
def: "A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Ser-390 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-390, CHEBI:50347." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S390N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-390, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-s390n
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045470
name: presenilin-1 sequence variant E280K (human)
def: "A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:29967." [Alzforum:KD, PMID:26396515, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E280K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-280, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-e280k
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044553
name: presenilin-1 sequence variant G209A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:46217." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G209A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-209, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-g209a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037684
name: presenilin-1 sequence variant E273A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Glu-273 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-273, CHEBI:46217." [Alzforum:KD, PMID:9804121, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E273A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-273, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-e273a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037685
name: presenilin-1 sequence variant T274R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Thr-274 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-274, CHEBI:29952." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T274R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-274, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075271
xref: Alzforum_mut:psen1-t274r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037686
name: presenilin-1 sequence variant A275V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-275 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-275, CHEBI:30015." [Alzforum:KD, PMID:24582897, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A275V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-275, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-a275v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037687
name: presenilin-1 sequence variant R278I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:30009." [Alzforum:KD, PMID:15534260, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R278I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-278, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-r278i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037680
name: presenilin-1 sequence variant R269H (human)
def: "A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Arg-269 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-269, CHEBI:29979." [Alzforum:KD, PMID:9189043, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R269H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-269, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006448
xref: Alzforum_mut:psen1-r269h
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037681
name: presenilin-1 sequence variant R269G (human)
def: "A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Arg-269 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-269, CHEBI:29947." [Alzforum:KD, PMID:8910898, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R269G" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-269, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006447
xref: Alzforum_mut:psen1-r269g
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037682
name: presenilin-1 sequence variant L271V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-271 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-271, CHEBI:30015." [Alzforum:KD, PMID:12493737, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L271V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-271, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_016220
xref: Alzforum_mut:psen1-l271v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037683
name: presenilin-1 sequence variant V272A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Val-272 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-272, CHEBI:46217." [Alzforum:KD, PMID:15469450, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V272A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-272, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-v272a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044551
name: presenilin-1 sequence variant F386I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-386 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-386, CHEBI:30009." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F386I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-386, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f386i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037688
name: presenilin-1 sequence variant R278K (human)
def: "A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:29967." [Alzforum:KD, PMID:12525746, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R278K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-278, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-r278k
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037689
name: presenilin-1 sequence variant R278T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:30013." [Alzforum:KD, PMID:9172170, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R278T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-278, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006449
xref: Alzforum_mut:psen1-r278t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037608
name: presenilin-1 sequence variant W165C (human)
def: "A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Trp-165 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Trp-165, CHEBI:29950." [Alzforum:KD, PMID:10441572, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:W165C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Trp-165, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010124
xref: Alzforum_mut:psen1-w165c
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037609
name: presenilin-1 sequence variant L166R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:29952." [Alzforum:KD, PMID:10768621, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L166R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-166, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l166r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037604
name: presenilin-1 sequence variant H163Y (human)
def: "A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:46858." [Alzforum:KD, PMID:7550356, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:H163Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, His-163, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006429
xref: Alzforum_mut:psen1-h163y
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037605
name: presenilin-1 sequence variant H163P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:50342." [Alzforum:KD, PMID:23046926, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:H163P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, His-163, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-h163p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037606
name: presenilin-1 sequence variant H163R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:29952." [Alzforum:KD, PMID:7596406, PMID:7623585, PMID:8634712, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:H163R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, His-163, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006428
xref: Alzforum_mut:psen1-h163r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037607
name: presenilin-1 sequence variant W165G (human)
def: "A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Trp-165 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Trp-165, CHEBI:29947." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:W165G" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Trp-165, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-w165g
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037600
name: presenilin-1 sequence variant T147I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-147 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-147, CHEBI:30009." [Alzforum:KD, PMID:10441572, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T147I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-147, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010123
xref: Alzforum_mut:psen1-t147i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037601
name: presenilin-1 sequence variant L153V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-153 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-153, CHEBI:30015." [Alzforum:KD, PMID:10874324, PMID:11405810, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L153V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-153, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l153v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037602
name: presenilin-1 sequence variant Y154N (human)
def: "A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Tyr-154 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-154, CHEBI:50347." [Alzforum:KD, PMID:15364419, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Y154N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Tyr-154, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-y154n
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037603
name: presenilin-1 sequence variant Y154C (human)
def: "A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-154 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-154, CHEBI:29950." [Alzforum:KD, PMID:12552037, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Y154C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Tyr-154, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-y154c
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037634
name: presenilin-1 sequence variant G209E (human)
def: "A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:29972." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G209E" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-209, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075267
xref: Alzforum_mut:psen1-g209e
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037710
name: presenilin-1 sequence variant G378V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-378 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-378, CHEBI:30015." [Alzforum:KD, PMID:12552037, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G378V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-378, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-g378v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037576
name: presenilin-1 sequence variant P117S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:29999." [Alzforum:KD, PMID:15004326, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P117S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-117, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-p117s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037577
name: presenilin-1 sequence variant P117R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:29952." [Alzforum:KD, PMID:14769392, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P117R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-117, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-p117r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037574
name: presenilin-1 sequence variant T116I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:30009." [Alzforum:KD, PMID:15272895, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T116I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-116, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-t116i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037575
name: presenilin-1 sequence variant T116N (human)
def: "A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:50347." [Alzforum:KD, PMID:10439444, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T116N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-116, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010120
xref: Alzforum_mut:psen1-t116n
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037572
name: presenilin-1 sequence variant Y115C (human)
def: "A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29950." [Alzforum:KD, PMID:9384602, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Y115C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Tyr-115, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006416
xref: Alzforum_mut:psen1-y115c
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037573
name: presenilin-1 sequence variant Y115D (human)
def: "A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29958." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Y115D" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Tyr-115, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-y115d
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037570
name: presenilin-1 sequence variant L113P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-113 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-113, CHEBI:50342." [Alzforum:KD, PMID:11094121, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L113P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-113, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_016215
xref: Alzforum_mut:psen1-l113p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037571
name: presenilin-1 sequence variant Y115H (human)
def: "A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29979." [Alzforum:KD, PMID:8634712, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Y115H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Tyr-115, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006417
xref: Alzforum_mut:psen1-y115h
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045461
name: presenilin-1 sequence variant L219R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29952." [Alzforum:KD, PMID:23638752, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L219R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-219, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l219r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037738
name: presenilin-1 sequence variant I439S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Ile-439 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-439, CHEBI:29999." [Alzforum:KD, PMID:20157243, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I439S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-439, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i439s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045453
name: presenilin-1 sequence variant L134R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-134 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-134, CHEBI:29952." [Alzforum:KD, PMID:22503161, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L134R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-134, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_070023
xref: Alzforum_mut:psen1-l134r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045462
name: presenilin-1 sequence variant L226F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-226 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-226, CHEBI:29997." [Alzforum:KD, PMID:16546171, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L226F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-226, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l226f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045465
name: presenilin-1 sequence variant A231P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:50342." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A231P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-231, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-a231p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045464
name: presenilin-1 sequence variant S230I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Ser-230 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-230, CHEBI:30009." [Alzforum:KD, PMID:22475797, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S230I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-230, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-s230i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037578
name: presenilin-1 sequence variant P117A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:46217." [Alzforum:KD, PMID:18024701, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P117A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-117, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-p117a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037579
name: presenilin-1 sequence variant P117L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:30006." [Alzforum:KD, PMID:9507958, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P117L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-117, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_009209
xref: Alzforum_mut:psen1-p117l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037697
name: presenilin-1 sequence variant P284S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-284 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-284, CHEBI:29999." [Alzforum:KD, PMID:16401857, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P284S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-284, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-p284s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037696
name: presenilin-1 sequence variant P284L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-284 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-284, CHEBI:30006." [Alzforum:KD, PMID:12391599, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P284L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-284, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-p284l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037695
name: presenilin-1 sequence variant L282R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:29952." [Alzforum:KD, PMID:9502232, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L282R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-282, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_009212
xref: Alzforum_mut:psen1-l282r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037694
name: presenilin-1 sequence variant L282F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:29997." [Alzforum:KD, PMID:19430857, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L282F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-282, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l282f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037693
name: presenilin-1 sequence variant L282V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:30015." [Alzforum:KD, PMID:11701593, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L282V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-282, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l282v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037692
name: presenilin-1 sequence variant E280G (human)
def: "A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:29947." [Alzforum:KD, PMID:12370477, PMID:7550356, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E280G" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-280, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006451
xref: Alzforum_mut:psen1-e280g
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037691
name: presenilin-1 sequence variant E280A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:46217." [Alzforum:KD, PMID:7550356, PMID:9052708, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Paisa PSEN1" EXACT [Alzforum_mut:psen1-e280a-paisa]
synonym: "hPSEN1/var:E280A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-280, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006450
xref: Alzforum_mut:psen1-e280a-paisa
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037690
name: presenilin-1 sequence variant R278S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:29999." [Alzforum:KD, PMID:17507029, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R278S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-278, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-r278s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037699
name: presenilin-1 sequence variant L286V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-286 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-286, CHEBI:30015." [Alzforum:KD, PMID:7596406, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L286V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-286, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006453
xref: Alzforum_mut:psen1-l286v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037698
name: presenilin-1 sequence variant A285V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-285 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-285, CHEBI:30015." [Alzforum:KD, PMID:7651536, PMID:9007097, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A285V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-285, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006452
xref: Alzforum_mut:psen1-a285v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037728
name: presenilin-1 sequence variant L424F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29997." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L424F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-424, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l424f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037598
name: presenilin-1 sequence variant M146V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30015." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M146V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-146, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006427
xref: Alzforum_mut:psen1-m146v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037599
name: presenilin-1 sequence variant T147P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-147 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-147, CHEBI:50342." [Alzforum:KD, PMID:24718101, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T147P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-147, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-t147p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037619
name: presenilin-1 sequence variant L173W (human)
def: "A presenilin-1 sequence variant (human) that has a Trp residue at the position equivalent to Leu-173 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-173, CHEBI:29954." [Alzforum:KD, PMID:10441572, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L173W" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-173, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010125
xref: Alzforum_mut:psen1-l173w
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037618
name: presenilin-1 sequence variant L171P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-171 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-171, CHEBI:50342." [Alzforum:KD, PMID:9833068, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L171P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-171, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006432
xref: Alzforum_mut:psen1-l171p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037594
name: presenilin-1 sequence variant I143T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:30013." [Alzforum:KD, PMID:11524469, PMID:8634711, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I143T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-143, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006424
xref: Alzforum_mut:psen1-i143t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037595
name: presenilin-1 sequence variant I143M (human)
def: "A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:16044." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I143M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-143, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i143m
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037596
name: presenilin-1 sequence variant M146L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30006." [Alzforum:KD, PMID:7596406, PMID:7623584, PMID:9712537, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M146L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-146, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006426
xref: Alzforum_mut:psen1-m146l-ac
xref: Alzforum_mut:psen1-m146l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037614
name: presenilin-1 sequence variant I168del (human)
def: "A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ile-168 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-167, 169-467." [Alzforum:KD, PMID:12552037, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I168del" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, 1-167, 169-467" NARROW PRO-proteoform-std [PRO:DAN]
xref: Alzforum_mut:psen1-i168del
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037590
name: presenilin-1 sequence variant M139I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30009." [Alzforum:KD, PMID:20213228, PMID:8538334, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M139I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-139, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006420
xref: Alzforum_mut:psen1-m139i-ga
xref: Alzforum_mut:psen1-m139i-gc
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037612
name: presenilin-1 sequence variant L166del (human)
def: "A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-165, 167-467." [Alzforum:KD, PMID:17594345, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L166del" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, 1-165, 167-467" NARROW PRO-proteoform-std [PRO:DAN]
xref: Alzforum_mut:psen1-l166del
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037592
name: presenilin-1 sequence variant I143V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:30015." [Alzforum:KD, PMID:21422519, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I143V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-143, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i143v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037593
name: presenilin-1 sequence variant I143F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:29997." [Alzforum:KD, PMID:10090481, PMID:8684135, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I143F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-143, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006423
xref: Alzforum_mut:psen1-i143f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045469
name: presenilin-1 sequence variant E273G (human)
def: "A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-273 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-273, CHEBI:29947." [Alzforum:KD, PMID:22475797, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E273G" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-273, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-e273g
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045468
name: presenilin-1 sequence variant L262V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-262 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-262, CHEBI:30015." [Alzforum:KD, PMID:22475797, PMID:22503161, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L262V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-262, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_070025
xref: Alzforum_mut:psen1-l262v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000021135
name: presenilin-1 proteolytic cleavage product
def: "A presenilin-1 that has been processed by proteolytic cleavage." [PRO:DNx]
comment: Category=modification. Requested by=Alzforum.
synonym: "PSEN1/ClvPrd" EXACT PRO-short-label [PRO:DNx]
intersection_of: output_of GO:0016485 ! protein processing
intersection_of: PR:000013344 ! presenilin-1

[Term]
id: PR:000037730
name: presenilin-1 sequence variant A426P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ala-426 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-426, CHEBI:50342." [Alzforum:KD, PMID:9521423, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A426P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-426, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006459
xref: Alzforum_mut:psen1-a426p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037638
name: presenilin-1 sequence variant I213T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:30013." [Alzforum:KD, PMID:8733303, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I213T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-213, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006434
xref: Alzforum_mut:psen1-i213t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037561
name: presenilin-1 sequence variant C92S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Cys-92 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-92, CHEBI:29999." [Alzforum:KD, PMID:14623725, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:C92S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Cys-92, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_016214
xref: Alzforum_mut:psen1-c92s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037560
name: presenilin-1 sequence variant V89L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-89 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-89, CHEBI:30006." [Alzforum:KD, PMID:11796781, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V89L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-89, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-v89l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037563
name: presenilin-1 sequence variant V96F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Val-96 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-96, CHEBI:29997." [Alzforum:KD, PMID:8733303, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V96F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-96, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006415
xref: Alzforum_mut:psen1-v96f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037562
name: presenilin-1 sequence variant V94M (human)
def: "A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Val-94 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-94, CHEBI:16044." [Alzforum:KD, PMID:11568920, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V94M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-94, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-v94m
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037565
name: presenilin-1 sequence variant F105I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30009." [Alzforum:KD, PMID:16033913, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F105I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-105, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f105i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037564
name: presenilin-1 sequence variant V97L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-97 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-97, CHEBI:30006." [Alzforum:KD, PMID:15851849, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V97L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-97, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-v97l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037567
name: presenilin-1 sequence variant F105C (human)
def: "A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:29950." [Alzforum:KD, PMID:24650794, PMID:24737487, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F105C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-105, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f105c
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037566
name: presenilin-1 sequence variant F105V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30015." [Alzforum:KD, PMID:20157243, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F105V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-105, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f105v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037569
name: presenilin-1 sequence variant L113Q (human)
def: "A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Leu-113 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-113, CHEBI:30011." [Alzforum:KD, PMID:15776278, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L113Q" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-113, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l113q
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037568
name: presenilin-1 sequence variant F105L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30006." [Alzforum:KD, PMID:10631141, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F105L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-105, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_009208
xref: Alzforum_mut:psen1-f105l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044558
name: presenilin-1 sequence variant R220P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Arg-220 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-220, CHEBI:50342." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R220P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-220, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-r220p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044559
name: presenilin-1 sequence variant S169del (human)
def: "A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-168, 170-467." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S169del" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, 1-168, 171-467" NARROW PRO-proteoform-std [PRO:DAN]
xref: Alzforum_mut:psen1-s169del-%CE%B4s169
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037739
name: presenilin-1 sequence variant I439V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-439 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-439, CHEBI:30015." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I439V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-439, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075282
xref: Alzforum_mut:psen1-i439v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037740
name: presenilin-1 sequence variant T440del (human)
def: "A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Thr-440 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-439, 441-467." [Alzforum:KD, PMID:15732120, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T440del" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, 1-439, 441-467" NARROW PRO-proteoform-std [PRO:DAN]
xref: Alzforum_mut:psen1-t440del
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037628
name: presenilin-1 sequence variant E184D (human)
def: "A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-184 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-184, CHEBI:29958." [Alzforum:KD, PMID:9292884, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E184D" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-184, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-e184d
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037629
name: presenilin-1 sequence variant V191A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Val-191 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-191, CHEBI:46217." [Alzforum:KD, PMID:18667258, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V191A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-191, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-v191a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037589
name: presenilin-1 sequence variant M139K (human)
def: "A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:29967." [Alzforum:KD, PMID:9719376, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M139K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-139, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010122
xref: Alzforum_mut:psen1-m139k
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037588
name: presenilin-1 sequence variant M139V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30015." [Alzforum:KD, PMID:7550356, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M139V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-139, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006422
xref: Alzforum_mut:psen1-m139v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037622
name: presenilin-1 sequence variant L174M (human)
def: "A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Leu-174 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-174, CHEBI:16044." [Alzforum:KD, PMID:12484344, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L174M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-174, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_016217
xref: Alzforum_mut:psen1-l174m
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037623
name: presenilin-1 sequence variant F175S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-175 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-175, CHEBI:29999." [Alzforum:KD, PMID:12037434, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F175S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-175, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f175s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037620
name: presenilin-1 sequence variant L173F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-173 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-173, CHEBI:29997." [Alzforum:KD, PMID:19280102, PMID:22906081, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L173F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-173, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l173f-gc
xref: Alzforum_mut:psen1-l173f-gt
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037621
name: presenilin-1 sequence variant L174R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-174 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-174, CHEBI:29952." [Alzforum:KD, PMID:15592140, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L174R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-174, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l174r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037626
name: presenilin-1 sequence variant S178P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ser-178 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-178, CHEBI:50342." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S178P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-178, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075265
xref: Alzforum_mut:psen1-s178p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037627
name: presenilin-1 sequence variant G183V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-183 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-183, CHEBI:30015." [Alzforum:KD, PMID:15122701, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G183V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-183, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-g183v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037624
name: presenilin-1 sequence variant F177S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-177 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-177, CHEBI:29999." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F177S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-177, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075264
xref: Alzforum_mut:psen1-f177s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037580
name: presenilin-1 sequence variant E120K (human)
def: "A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29967." [Alzforum:KD, PMID:8733749, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E120K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-120, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006419
xref: Alzforum_mut:psen1-e120k
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000036285
name: presenilin-1 sequence variant (human)
def: "A presenilin-1 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-1 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-1 (human). Operationally, this means the sequence representation of the presenilin-1 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represented by UniProtKB:P49768-1." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var+" EXACT PRO-short-label [PRO:DNx]
is_a: PR:P49768 ! presenilin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q4JIM4
name: presenilin-1 (chicken)
def: "A presenilin-1 that is encoded in the genome of chicken." [OMA:Q4JIM4, PRO:DNx]
comment: Category=organism-gene.
synonym: "PSEN1" RELATED Gene-based [UniProtKB:Q4JIM4]
synonym: "chick-PSEN1" EXACT PRO-short-label [PRO:DNx]
synonym: "PS-1 (chicken)" EXACT [UniProtKB:Q4JIM4]
xref: UniProtKB:Q4JIM4
intersection_of: only_in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: PR:000013344 ! presenilin-1
relationship: has_gene_template NCBIGene:373977 ! PSEN1 (chicken)

[Term]
id: PR:000045467
name: presenilin-1 sequence variant A246P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ala-246 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-246, CHEBI:50342." [Alzforum:KD, PMID:26350633, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A246P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-246, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-a246p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045466
name: presenilin-1 sequence variant L235R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-235 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-235, CHEBI:29952." [Alzforum:KD, PMID:21501661, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L235R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-235, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l235r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037711
name: presenilin-1 sequence variant L381V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-381 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-381, CHEBI:30015." [Alzforum:KD, PMID:19797784, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L381V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-381, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l381v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045805
name: presenilin-1 phosphorylated 1 (human)
def: "A presenilin-1 (human) that has been phosphorylated at the position equivalent to Thr-354 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-354, MOD:00047." [PMID:12056836, iPTMnet:P49768]
comment: Category=organism-modification. Evidence=(ECO:0000006, based on PMID:12056836). Status=unreviewed.
synonym: "hPSEN1/Phos:1" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P49768-1, Thr-354, MOD:00047" NARROW PRO-proteoform-std [PRO:DNx]
is_a: PR:P49768 ! presenilin-1 (human)
relationship: has_part MOD:00047 ! O-phospho-L-threonine
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045460
name: presenilin-1 sequence variant I202F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-202 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-202, CHEBI:29997." [Alzforum:KD, PMID:21144619, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I202F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-202, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i202f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037635
name: presenilin-1 sequence variant G209R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:29952." [Alzforum:KD, PMID:10447269, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G209R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-209, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_009210
xref: Alzforum_mut:psen1-g209r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037587
name: presenilin-1 sequence variant M139T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30013." [Alzforum:KD, PMID:8634712, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M139T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-139, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006421
xref: Alzforum_mut:psen1-m139t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037637
name: presenilin-1 sequence variant S212Y (human)
def: "A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Ser-212 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-212, CHEBI:46858." [Alzforum:KD, PMID:21094210, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S212Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-212, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-s212y
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037636
name: presenilin-1 sequence variant G209V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:30015." [Alzforum:KD, PMID:9521423, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G209V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-209, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006433
xref: Alzforum_mut:psen1-g209v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037631
name: presenilin-1 sequence variant G206S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:29999." [Alzforum:KD, PMID:11524469, PMID:16033913, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G206S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-206, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075266
xref: Alzforum_mut:psen1-g206s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037630
name: presenilin-1 sequence variant G206A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:46217." [Alzforum:KD, PMID:11524469, PMID:11710891, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G206A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-206, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_016218
xref: Alzforum_mut:psen1-g206a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037633
name: presenilin-1 sequence variant G206D (human)
def: "A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:29958." [Alzforum:KD, PMID:16033913, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G206D" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-206, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-g206d
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037632
name: presenilin-1 sequence variant G206V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:30015." [Alzforum:KD, PMID:12112163, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G206V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-206, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-g206v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037734
name: presenilin-1 sequence variant A434T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-434 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-434, CHEBI:30013." [Alzforum:KD, PMID:24650794, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A434T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-434, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-a434t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037735
name: presenilin-1 sequence variant L435F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-435 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-435, CHEBI:29997." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L435F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-435, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075280
xref: Alzforum_mut:psen1-l435f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037736
name: presenilin-1 sequence variant P436S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-436 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-436, CHEBI:29999." [Alzforum:KD, PMID:10090481, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P436S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-436, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_008141
xref: Alzforum_mut:psen1-p436s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037737
name: presenilin-1 sequence variant P436Q (human)
def: "A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Pro-436 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-436, CHEBI:30011." [Alzforum:KD, PMID:9831473, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P436Q" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-436, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006460
xref: Alzforum_mut:psen1-p436q
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037639
name: presenilin-1 sequence variant I213F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:29997." [Alzforum:KD, PMID:14769392, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I213F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-213, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i213f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037585
name: presenilin-1 sequence variant N135S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:29999." [Alzforum:KD, PMID:15776278, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:N135S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Asn-135, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-n135s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037732
name: presenilin-1 sequence variant A431E (human)
def: "A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Ala-431 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-431, CHEBI:29972." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Jalisco PSEN1" EXACT [Alzforum_mut:psen1-a431e-jalisco]
synonym: "hPSEN1/var:A431E" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-431, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_025605
xref: Alzforum_mut:psen1-a431e-jalisco
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037733
name: presenilin-1 sequence variant A434C (human)
def: "A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Ala-434 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-434, CHEBI:29950." [Alzforum:KD, PMID:11030797, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A434C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-434, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-a434c
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037584
name: presenilin-1 sequence variant N135D (human)
def: "A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:29958." [Alzforum:KD, PMID:9225696, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:N135D" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Asn-135, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010121
xref: Alzforum_mut:psen1-n135d
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045463
name: presenilin-1 sequence variant S230R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Ser-230 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-230, CHEBI:29952." [Alzforum:KD, PMID:24880964, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S230R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-230, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-s230r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037583
name: presenilin-1 sequence variant E123K (human)
def: "A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-123 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-123, CHEBI:29967." [Alzforum:KD, PMID:9923762, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E123K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-123, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-e123k
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037582
name: presenilin-1 sequence variant E120D (human)
def: "A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29958." [Alzforum:KD, PMID:8931704, PMID:9521423, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E120D" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-120, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006418
xref: Alzforum_mut:psen1-e120d-ac
xref: Alzforum_mut:psen1-e120d
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49768-6
name: presenilin-1 isoform h6 (human)
def: "A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-6." [PRO:DNx, UniProtKB:P49768]
comment: Category=organism-sequence.
synonym: "hPSEN1/iso:h6" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P49768-6
is_a: PR:P49768 ! presenilin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49768-7
name: presenilin-1 isoform h7 (human)
def: "A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-7." [PRO:DNx, UniProtKB:P49768]
comment: Category=organism-sequence.
synonym: "hPSEN1/iso:h7" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P49768-7
is_a: PR:P49768 ! presenilin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49768-4
name: presenilin-1 isoform h4 (human)
def: "A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-4." [PRO:DNx, UniProtKB:P49768]
comment: Category=organism-sequence.
synonym: "hPSEN1/iso:h4" EXACT PRO-short-label [PRO:DNx]
synonym: "presenilin-1 isoform Minilin (human)" EXACT [UniProtKB:P49768]
xref: UniProtKB:P49768-4
is_a: PR:P49768 ! presenilin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49768-5
name: presenilin-1 isoform h5 (human)
def: "A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-5." [PRO:DNx, UniProtKB:P49768]
comment: Category=organism-sequence.
synonym: "hPSEN1/iso:h5" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P49768-5
is_a: PR:P49768 ! presenilin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49768-2
name: presenilin-1 isoform h2 (human)
def: "A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-2." [PRO:DNx, UniProtKB:P49768]
comment: Category=organism-sequence.
synonym: "hPSEN1/iso:h2" EXACT PRO-short-label [PRO:DNx]
synonym: "presenilin-1 isoform I-463 (human)" EXACT [UniProtKB:P49768]
xref: UniProtKB:P49768-2
is_a: PR:P49768 ! presenilin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037581
name: presenilin-1 sequence variant E120G (human)
def: "A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29947." [Alzforum:KD, PMID:20157243, PMID:20388456, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E120G" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-120, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-e120g
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49769
name: presenilin-1 (mouse)
def: "A presenilin-1 that is encoded in the genome of mouse." [OMA:P49769, PRO:DNx]
comment: Category=organism-gene.
synonym: "Ad3h" RELATED Gene-based [UniProtKB:P49769]
synonym: "Psen1" RELATED Gene-based [UniProtKB:P49769]
synonym: "Psnl1" RELATED Gene-based [UniProtKB:P49769]
synonym: "mPSEN1" EXACT PRO-short-label [PRO:DNx]
synonym: "PS-1 (mouse)" EXACT [UniProtKB:P49769]
synonym: "protein S182 (mouse)" EXACT [UniProtKB:P49769]
xref: UniProtKB:P49769
intersection_of: only_in_taxon NCBITaxon:10090 ! Mus musculus
intersection_of: PR:000013344 ! presenilin-1
relationship: has_gene_template MGI:1202717 ! Psen1 (mouse)

[Term]
id: PR:P49768-1
name: presenilin-1 isoform 1 (human)
def: "A presenilin-1 isoform 1 that is encoded in the genome of human." [PRO:DNx]
comment: Category=organism-sequence.
synonym: "hPSEN1/iso:1" EXACT PRO-short-label [PRO:DNx]
synonym: "presenilin-1 isoform I-467 (human)" EXACT [UniProtKB:P49768]
xref: UniProtKB:P49768-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000039604 ! presenilin-1 isoform 1

[Term]
id: PR:P97887
name: presenilin-1 (rat)
def: "A presenilin-1 that is encoded in the genome of rat." [OMA:P97887, PANTHER:PTHR10202:SF7, PRO:DNx]
comment: Category=organism-gene.
synonym: "Psen1" RELATED Gene-based [UniProtKB:P97887]
synonym: "Psnl1" RELATED Gene-based [UniProtKB:P97887]
synonym: "rPSEN1" EXACT PRO-short-label [PRO:DNx]
synonym: "PS-1 (rat)" EXACT [UniProtKB:P97887]
synonym: "protein S182 (rat)" EXACT [UniProtKB:P97887]
xref: UniProtKB:P97887
intersection_of: only_in_taxon NCBITaxon:10116 ! Rattus norvegicus
intersection_of: PR:000013344 ! presenilin-1
relationship: has_gene_template RGD:3425 ! Psen1 (rat)

[Term]
id: PR:000044632
name: presenilin-1 sequence variant F205L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-205 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-205, CHEBI:30006." [PRO:DAN, UniProtKB_VAR:VAR_011876]
comment: Category=organism-sequence.
synonym: "hPSEN1/var:F205L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-205, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_011876
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037586
name: presenilin-1 sequence variant A136G (human)
def: "A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Ala-136 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-136, CHEBI:29947." [Alzforum:KD, PMID:17456364, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A136G" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-136, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-a136g
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037625
name: presenilin-1 sequence variant F177L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-177 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-177, CHEBI:30006." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F177L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-177, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075263
xref: Alzforum_mut:psen1-f177l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044635
name: presenilin-1 sequence variant I213L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:30006." [PRO:DAN, UniProtKB_VAR:VAR_075268]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I213L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-213, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075268
xref: Alzforum_mut:psen1-i213l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49768-3
name: presenilin-1 isoform h3 (human)
def: "A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-3." [PRO:DNx, UniProtKB:P49768]
comment: Category=organism-sequence.
synonym: "hPSEN1/iso:h3" EXACT PRO-short-label [PRO:DNx]
synonym: "presenilin-1 isoform I-374 (human)" EXACT [UniProtKB:P49768]
xref: UniProtKB:P49768-3
is_a: PR:P49768 ! presenilin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045450
name: presenilin-1 sequence variant R108Q (human)
def: "A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-108 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-108, CHEBI:30011." [Alzforum:KD, PMID:22221884, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R108Q" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-108, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-r108q
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045451
name: presenilin-1 sequence variant T116R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:29952." [Alzforum:KD, PMID:11395394, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T116R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-116, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-t116r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045452
name: presenilin-1 sequence variant H131R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to His-131 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-131, CHEBI:29952." [Alzforum:KD, PMID:23638752, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:H131R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, His-131, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-h131r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045448
name: presenilin-1 sequence variant I83T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-83 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-83, CHEBI:30013." [Alzforum:KD, PMID:26145164, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I83T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-83, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075261
xref: Alzforum_mut:psen1-i83t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045454
name: presenilin-1 sequence variant L150P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-150 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-150, CHEBI:50342." [Alzforum:KD, PMID:22475797, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L150P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-150, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l150p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045455
name: presenilin-1 sequence variant A164V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-164 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-164, CHEBI:30015." [Alzforum:KD, PMID:26350633, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A164V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-164, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-a164v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045456
name: presenilin-1 sequence variant L166V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:30015." [Alzforum:KD, PMID:24880964, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L166V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-166, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l166v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045457
name: presenilin-1 sequence variant I168T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-168 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-168, CHEBI:30013." [Alzforum:KD, PMID:25104557, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I168T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-168, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i168t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045458
name: presenilin-1 sequence variant F176L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-176 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-176, CHEBI:30006." [Alzforum:KD, PMID:23246540, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F176L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-176, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f176l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045459
name: presenilin-1 sequence variant E184G (human)
def: "A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-184 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-184, CHEBI:29947." [Alzforum:KD, PMID:22475797, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E184G" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-184, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-e184g
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49768
name: presenilin-1 (human)
def: "A presenilin-1 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P49768]
comment: Category=organism-gene. Requested by=Alzforum.
synonym: "AD3" RELATED Gene-based [UniProtKB:P49768]
synonym: "PS1" RELATED Gene-based [UniProtKB:P49768]
synonym: "PSEN1" RELATED Gene-based [UniProtKB:P49768]
synonym: "PSNL1" RELATED Gene-based [UniProtKB:P49768]
synonym: "hPSEN1" EXACT PRO-short-label [PRO:DNx]
synonym: "PS-1 (human)" EXACT [UniProtKB:P49768]
synonym: "protein S182 (human)" EXACT [UniProtKB:P49768]
xref: Reactome:R-HSA-201606 "PR:P49768 located_in GO:0005886"
xref: Reactome:R-HSA-6799235 "PR:P49768 located_in GO:0035577"
xref: UniProtKB:P49768
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000013344 ! presenilin-1
relationship: has_gene_template HGNC:9508 ! PSEN1 (human)

[Term]
id: PR:000037640
name: presenilin-1 sequence variant H214Y (human)
def: "A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:46858." [Alzforum:KD, PMID:16033913, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:H214Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, His-214, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_070024
xref: Alzforum_mut:psen1-h214y
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037641
name: presenilin-1 sequence variant H214D (human)
def: "A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:29958." [Alzforum:KD, PMID:18667258, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:H214D" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, His-214, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-h214d
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037642
name: presenilin-1 sequence variant G217D (human)
def: "A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Gly-217 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-217, CHEBI:29958." [Alzforum:KD, PMID:12111359, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G217D" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-217, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-g217d
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037643
name: presenilin-1 sequence variant G217R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gly-217 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-217, CHEBI:29952." [Alzforum:KD, PMID:19667325, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G217R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-217, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-g217r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037644
name: presenilin-1 sequence variant L219F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29997." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L219F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-219, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l219f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037645
name: presenilin-1 sequence variant L219P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:50342." [Alzforum:KD, PMID:10208579, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L219P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-219, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010126
xref: Alzforum_mut:psen1-l219p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037646
name: presenilin-1 sequence variant Q222R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-222 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-222, CHEBI:29952." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Q222R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gln-222, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075269
xref: Alzforum_mut:psen1-q222r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037647
name: presenilin-1 sequence variant Q222H (human)
def: "A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Gln-222 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-222, CHEBI:29979." [Alzforum:KD, PMID:12885573, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Q222H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gln-222, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-q222h
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037648
name: presenilin-1 sequence variant Q223R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-223 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-223, CHEBI:29952." [Alzforum:KD, PMID:19912322, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Q223R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gln-223, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-q223r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037649
name: presenilin-1 sequence variant L226R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-226 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-226, CHEBI:29952." [Alzforum:KD, PMID:15196662, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L226R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-226, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l226r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037725
name: presenilin-1 sequence variant L420R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-420 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-420, CHEBI:29952." [Alzforum:KD, PMID:17645236, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L420R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-420, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l420r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037724
name: presenilin-1 sequence variant L418F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-418 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-418, CHEBI:29997." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L418F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-418, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075278
xref: Alzforum_mut:psen1-l418f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037723
name: presenilin-1 sequence variant V412I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Val-412 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-412, CHEBI:30009." [Alzforum:KD, PMID:18314228, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V412I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-412, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-v412i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037722
name: presenilin-1 sequence variant C410Y (human)
def: "A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Cys-410 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-410, CHEBI:46858." [Alzforum:KD, PMID:7596406, PMID:8634712, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:C410Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Cys-410, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006458
xref: Alzforum_mut:psen1-c410y
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037721
name: presenilin-1 sequence variant A409T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-409 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-409, CHEBI:30013." [Alzforum:KD, PMID:10533070, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A409T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-409, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_009213
xref: Alzforum_mut:psen1-a409t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037720
name: presenilin-1 sequence variant N405S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Asn-405 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-405, CHEBI:29999." [Alzforum:KD, PMID:10644793, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:N405S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Asn-405, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010129
xref: Alzforum_mut:psen1-n405s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045475
name: presenilin-1 sequence variant I437V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-437 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-437, CHEBI:30015." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I437V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-437, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i437v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q9W6T7
name: presenilin-1 (zebrafish)
def: "A presenilin-1 that is encoded in the genome of zebrafish." [OMA:Q9W6T7, PRO:DNx]
comment: Category=organism-gene.
synonym: "psen1" RELATED Gene-based [UniProtKB:Q9W6T7]
synonym: "z-PSEN1" EXACT PRO-short-label [PRO:DNx]
synonym: "PS-1 (zebrafish)" EXACT [UniProtKB:Q9W6T7]
synonym: "Zf-PS1 (zebrafish)" EXACT [UniProtKB:Q9W6T7]
xref: UniProtKB:Q9W6T7
intersection_of: only_in_taxon NCBITaxon:7955 ! Danio rerio
intersection_of: PR:000013344 ! presenilin-1
relationship: has_gene_template ZFIN:ZDB-GENE-991119-4 ! psen1 (zebrafish)

[Term]
id: PR:000037652
name: presenilin-1 sequence variant A231T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:30013." [Alzforum:KD, PMID:8634712, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A231T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-231, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006435
xref: Alzforum_mut:psen1-a231t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037718
name: presenilin-1 sequence variant L392P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-392 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-392, CHEBI:50342." [Alzforum:KD, PMID:11094128, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L392P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-392, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l392p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037719
name: presenilin-1 sequence variant G394V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-394 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-394, CHEBI:30015." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G394V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-394, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075276
xref: Alzforum_mut:psen1-g394v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045471
name: presenilin-1 sequence variant R352C (human)
def: "A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Arg-352 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-352, CHEBI:29950." [Alzforum:KD, PMID:25595498, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R352C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-352, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-r352c
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045447
name: presenilin-1 sequence variant E69D (human)
def: "A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-69 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-69, CHEBI:29958." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E69D" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-69, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-e69d
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045449
name: presenilin-1 sequence variant T99A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Thr-99 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-99, CHEBI:46217." [Alzforum:KD, PMID:23638752, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T99A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-99, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-t99a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037654
name: presenilin-1 sequence variant M233T (human)
def: "A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30013." [Alzforum:KD, PMID:9172170, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M233T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-233, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006437
xref: Alzforum_mut:psen1-m233t
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037653
name: presenilin-1 sequence variant M233L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30006." [Alzforum:KD, PMID:10533070, PMID:16948293, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M233L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-233, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_009211
xref: Alzforum_mut:psen1-m233l-ac
xref: Alzforum_mut:psen1-m233l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037617
name: presenilin-1 sequence variant S170F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ser-170 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-170, CHEBI:29997." [Alzforum:KD, PMID:16344340, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S170F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-170, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-s170f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037651
name: presenilin-1 sequence variant A231V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:30015." [Alzforum:KD, PMID:9384602, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A231V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-231, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006436
xref: Alzforum_mut:psen1-a231v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037650
name: presenilin-1 sequence variant I229F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-229 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-229, CHEBI:29997." [Alzforum:KD, PMID:12552037, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I229F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-229, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i229f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037657
name: presenilin-1 sequence variant L235P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-235 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-235, CHEBI:50342." [Alzforum:KD, PMID:8904759, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L235P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-235, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006438
xref: Alzforum_mut:psen1-l235p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037656
name: presenilin-1 sequence variant M233V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30015." [Alzforum:KD, PMID:11684347, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M233V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-233, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-m233v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037655
name: presenilin-1 sequence variant M233I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30009." [Alzforum:KD, PMID:14581682, PMID:22475797, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M233I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-233, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-m233i-ga
xref: Alzforum_mut:psen1-m233i-gc
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037616
name: presenilin-1 sequence variant S169P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-169, CHEBI:50342." [Alzforum:KD, PMID:10025789, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S169P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-169, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006431
xref: Alzforum_mut:psen1-s169p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037712
name: presenilin-1 sequence variant L381F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-381 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-381, CHEBI:29997." [Alzforum:KD, PMID:24121961, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L381F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-381, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l381f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037713
name: presenilin-1 sequence variant G384A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-384 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-384, CHEBI:46217." [Alzforum:KD, PMID:8634711, PMID:8945747, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G384A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-384, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006456
xref: Alzforum_mut:psen1-g384a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037659
name: presenilin-1 sequence variant F237L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-237 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-237, CHEBI:30006." [Alzforum:KD, PMID:12552037, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F237L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-237, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f237l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037658
name: presenilin-1 sequence variant L235V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-235 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-235, CHEBI:30015." [Alzforum:KD, PMID:12552037, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L235V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-235, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l235v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037716
name: presenilin-1 sequence variant V391F (human)
def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Val-391 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-391, CHEBI:29997." [Alzforum:KD, PMID:16033913, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V391F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-391, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-v391f
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037615
name: presenilin-1 sequence variant S169L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-169, CHEBI:30006." [Alzforum:KD, PMID:9831473, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S169L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-169, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006430
xref: Alzforum_mut:psen1-s169l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037714
name: presenilin-1 sequence variant F386S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-386 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-386, CHEBI:29999." [Alzforum:KD, PMID:16033913, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F386S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-386, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f386s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037715
name: presenilin-1 sequence variant S390I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Ser-390 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-390, CHEBI:30009." [Alzforum:KD, PMID:10441572, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S390I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-390, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010128
xref: Alzforum_mut:psen1-s390i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037597
name: presenilin-1 sequence variant M146I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30009." [Alzforum:KD, PMID:11524469, PMID:9007311, PMID:9544835, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:M146I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Met-146, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006425
xref: Alzforum_mut:psen1-m146i-ga
xref: Alzforum_mut:psen1-m146i-gc
xref: Alzforum_mut:psen1-m146i-gt
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037613
name: presenilin-1 sequence variant I167del (human)
def: "A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ile-167 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-166, 168-467." [Alzforum:KD, PMID:24650794, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I167del" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, 1-166, 168-467" NARROW PRO-proteoform-std [PRO:DAN]
xref: Alzforum_mut:psen1-i167del
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037591
name: presenilin-1 sequence variant I143N (human)
def: "A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:50347." [Alzforum:KD, PMID:16033913, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I143N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-143, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i143n
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037731
name: presenilin-1 sequence variant A431V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-431 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-431, CHEBI:30015." [Alzforum:KD, PMID:12399144, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A431V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-431, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-a431v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037611
name: presenilin-1 sequence variant L166H (human)
def: "A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:29979." [Alzforum:KD, PMID:16388371, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L166H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-166, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l166h
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037610
name: presenilin-1 sequence variant L166P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:50342." [Alzforum:KD, PMID:12048239, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L166P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-166, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_016216
xref: Alzforum_mut:psen1-l166p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49769-2
name: presenilin-1 isoform m2 (mouse)
def: "A presenilin-1 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49769-2." [PRO:DNx, UniProtKB:P49769]
comment: Category=organism-sequence.
synonym: "mPSEN1/iso:m2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P49769-2
is_a: PR:P49769 ! presenilin-1 (mouse)
relationship: only_in_taxon NCBITaxon:10090 ! Mus musculus

[Term]
id: PR:P49769-1
name: presenilin-1 isoform 1 (mouse)
def: "A presenilin-1 isoform 1 that is encoded in the genome of mouse." [PRO:DNx]
comment: Category=organism-sequence.
synonym: "mPSEN1/iso:1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P49769-1
intersection_of: only_in_taxon NCBITaxon:10090 ! Mus musculus
intersection_of: PR:000039604 ! presenilin-1 isoform 1

[Term]
id: PR:000037668
name: presenilin-1 sequence variant L250V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-250, CHEBI:30015." [Alzforum:KD, PMID:12686406, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L250V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-250, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l250v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037669
name: presenilin-1 sequence variant Y256S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Tyr-256 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-256, CHEBI:29999." [Alzforum:KD, PMID:12885573, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Y256S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Tyr-256, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-y256s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037666
name: presenilin-1 sequence variant L248P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-248 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-248, CHEBI:50342." [Alzforum:KD, PMID:24650794, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L248P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-248, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l248p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037667
name: presenilin-1 sequence variant L250S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-250, CHEBI:29999." [Alzforum:KD, PMID:8733749, PMID:9436726, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L250S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-250, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006440
xref: Alzforum_mut:psen1-l250s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037664
name: presenilin-1 sequence variant A246E (human)
def: "A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Ala-246 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-246, CHEBI:29972." [Alzforum:KD, PMID:7596406, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A246E" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-246, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006439
xref: Alzforum_mut:psen1-a246e
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037665
name: presenilin-1 sequence variant L248R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-248 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-248, CHEBI:29952." [Alzforum:KD, PMID:18667258, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L248R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-248, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l248r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037662
name: presenilin-1 sequence variant K239N (human)
def: "A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Lys-239 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Lys-239, CHEBI:50347." [Alzforum:KD, PMID:20158511, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:K239N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Lys-239, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-k239n
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037663
name: presenilin-1 sequence variant T245P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-245 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-245, CHEBI:50342." [Alzforum:KD, PMID:16469444, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T245P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-245, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-t245p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037660
name: presenilin-1 sequence variant F237I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-237 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-237, CHEBI:30009." [Alzforum:KD, PMID:11561050, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F237I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-237, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f237i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037661
name: presenilin-1 sequence variant I238M (human)
def: "A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Ile-238 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-238, CHEBI:16044." [Alzforum:KD, PMID:24413619, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:I238M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ile-238, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-i238m
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037705
name: presenilin-1 sequence variant R358Q (human)
def: "A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-358 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-358, CHEBI:30011." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R358Q" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-358, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075274
xref: Alzforum_mut:psen1-r358q
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037704
name: presenilin-1 sequence variant T354I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-354 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-354, CHEBI:30009." [Alzforum:KD, PMID:11524469, PMID:16801675, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T354I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-354, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075273
xref: Alzforum_mut:psen1-t354i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037707
name: presenilin-1 sequence variant S365Y (human)
def: "A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Ser-365 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-365, CHEBI:46858." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S365Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-365, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075275
xref: Alzforum_mut:psen1-s365y
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037706
name: presenilin-1 sequence variant S365A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Ser-365 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-365, CHEBI:46217." [Alzforum:KD, PMID:18667258, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S365A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-365, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-s365a
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037701
name: presenilin-1 sequence variant T291P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-291 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-291, CHEBI:50342." [Alzforum:KD, PMID:16941492, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:T291P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Thr-291, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-t291p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037700
name: presenilin-1 sequence variant L286P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-286 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-286, CHEBI:50342." [Alzforum:KD, PMID:18028191, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L286P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-286, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l286p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037703
name: presenilin-1 sequence variant D333G (human)
def: "A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Asp-333 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asp-333, CHEBI:29947." [Alzforum:KD, PMID:17186461, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:D333G" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Asp-333, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_064902
xref: Alzforum_mut:psen1-d333g
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037702
name: presenilin-1 sequence variant E318G (human)
def: "A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-318 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-318, CHEBI:29947." [Alzforum:KD, PMID:8773614, PMID:9384602, PMID:9851450, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E318G" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-318, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006454
xref: Alzforum_mut:psen1-e318g
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037709
name: presenilin-1 sequence variant G378E (human)
def: "A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Gly-378 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-378, CHEBI:29972." [Alzforum:KD, PMID:10200054, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G378E" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gly-378, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006455
xref: Alzforum_mut:psen1-g378e
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037708
name: presenilin-1 sequence variant R377M (human)
def: "A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Arg-377 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-377, CHEBI:16044." [Alzforum:KD, PMID:12552037, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R377M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-377, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-r377m
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000050490
name: presenilin-1 sequence variant P433S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-433 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-433, CHEBI:29999." [PRO:DAN, UniProtKB_VAR:VAR_075279]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:P433S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Pro-433, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-p433s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037558
name: presenilin-1 sequence variant V82L (human)
def: "A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-82 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-82, CHEBI:30006." [Alzforum:KD, PMID:8634712, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V82L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Val-82, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006414
xref: Alzforum_mut:psen1-v82l
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037559
name: presenilin-1 sequence variant L85P (human)
def: "A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-85 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-85, CHEBI:50342." [Alzforum:KD, PMID:15534188, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L85P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Leu-85, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l85p
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037555
name: presenilin-1 sequence variant R35Q (human)
def: "A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-35 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-35, CHEBI:30011." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R35Q" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-35, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075260
xref: Alzforum_mut:psen1-r35q
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037556
name: presenilin-1 sequence variant D40del (human)
def: "A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Asp-40 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-39, 41-467." [Alzforum:KD, PMID:24463146, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:D40del" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, 1-39, 41-467" NARROW PRO-proteoform-std [PRO:DAN]
xref: Alzforum_mut:psen1-d40del-delacg
xref: Alzforum_mut:psen1-d40del-delgac
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037557
name: presenilin-1 sequence variant A79V (human)
def: "A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-79 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-79, CHEBI:30015." [Alzforum:KD, PMID:9384602, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A79V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ala-79, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006413
xref: Alzforum_mut:psen1-a79v
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens