[Term]
id: PR:000000888
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G216R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-216 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-216, CHEBI:29952." [PMID:9272155, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within segment S2.
synonym: "hKCNQ1/var:G216R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-216, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 74 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001521
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000889
name: voltage-gated potassium channel subunit KCNQ1 sequence variant V417M (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Val-417 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-417, CHEBI:16044." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:V417M" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Val-417, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 8 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_010934
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000854
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R539W (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Arg-539 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-539, CHEBI:29954." [PMID:10728423, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus. This amino acid change affects the interaction with other channel subunits.
synonym: "hKCNQ1/var:R539W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-539, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 43 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008950
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000880
name: voltage-gated potassium channel subunit KCNQ1 sequence variant Y281C (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Tyr-281 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-281, CHEBI:29950." [PMID:9927399, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within segment S5.
synonym: "hKCNQ1/var:Y281C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Tyr-281, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 67 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008945
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000866
name: voltage-gated potassium channel subunit KCNQ1 sequence variant E160K (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Lys residue at the position equivalent to Glu-160 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Glu-160, CHEBI:29967." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within the segment S2.
synonym: "hKCNQ1/var:E160K" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Glu-160, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 54 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009919
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000882
name: voltage-gated potassium channel subunit KCNQ1 sequence variant F157C (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Phe-157 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Phe-157, CHEBI:29950." [PMID:10220146, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within segment S2.
synonym: "hKCNQ1/var:F157C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Phe-157, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 69 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008124
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000883
name: voltage-gated potassium channel subunit KCNQ1 sequence variant L353P (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Leu-353 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-353, CHEBI:50342." [PMID:9693036, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:L353P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Leu-353, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 7 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009180
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000884
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G325R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-325 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-325, CHEBI:29952." [PMID:9024139, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:G325R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-325, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 70 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001536
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000849
name: voltage-gated potassium channel subunit KCNQ1 sequence variant L342F (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Phe residue at the position equivalent to Leu-342 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-342, CHEBI:29997." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within the segment S6.
synonym: "hKCNQ1/var:L342F" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Leu-342, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 39 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001540
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000886
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G269D (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asp residue at the position equivalent to Gly-269 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-269, CHEBI:29958." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within segment S5.
synonym: "hKCNQ1/var:G269D" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-269, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 72 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001524
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000867
name: voltage-gated potassium channel subunit KCNQ1 sequence variant V254M (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Val-254 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-254, CHEBI:16044." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:V254M" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Val-254, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 55 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001522
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000887
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G589D (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asp residue at the position equivalent to Gly-589 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-589, CHEBI:29958." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:G589D" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-589, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 73 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008952
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000864
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R366P (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Arg-366 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-366, CHEBI:50342." [PMID:10704188, PMID:9024139, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:R366P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-366, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 52 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001543
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000828
name: voltage-gated potassium channel subunit KCNQ1 sequence variant P448R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Pro-448 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Pro-448, CHEBI:29952." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:P448R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Pro-448, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 2 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009931
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000829
name: voltage-gated potassium channel subunit KCNQ1 sequence variant T309R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Thr-309 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-309, CHEBI:29952." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:T309R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Thr-309, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 20 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001529
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000826
name: voltage-gated potassium channel subunit KCNQ1 sequence variant A178T (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Thr residue at the position equivalent to Ala-178 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-178, CHEBI:30013." [PMID:10704188, PMID:9024139, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the loop connecting segments S2 and S3.
synonym: "hKCNQ1/var:A178T" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ala-178, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 18 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009920
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000827
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G189R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-189 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-189, CHEBI:29952." [PMID:10220144, PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic loop connecting S2-S3.
synonym: "hKCNQ1/var:G189R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-189, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 19 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001519
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000824
name: voltage-gated potassium channel subunit KCNQ1 sequence variant S225L (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Leu residue at the position equivalent to Ser-225 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-225, CHEBI:30006." [PMID:10704188, PMID:9927399, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:S225L" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ser-225, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 16 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009923
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000825
name: voltage-gated potassium channel subunit KCNQ1 sequence variant A178P (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Ala-178 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-178, CHEBI:50342." [PMID:9024139, PMID:9323054, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the loop connecting segments S2 and S3.
synonym: "hKCNQ1/var:A178P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ala-178, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 17 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001518
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000822
name: voltage-gated potassium channel subunit KCNQ1 sequence variant S566F (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Phe residue at the position equivalent to Ser-566 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-566, CHEBI:29997." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:S566F" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ser-566, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 14 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009932
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000823
name: voltage-gated potassium channel subunit KCNQ1 sequence variant Y315C (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Tyr-315 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-315, CHEBI:29950." [PMID:10704188, PMID:9693036, PMID:9927399, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:Y315C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Tyr-315, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 15 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008946
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000820
name: voltage-gated potassium channel subunit KCNQ1 sequence variant D317N (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asn residue at the position equivalent to Asp-317 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Asp-317, CHEBI:50347." [PMID:9302275, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:D317N" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Asp-317, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 12 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001534
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000821
name: voltage-gated potassium channel subunit KCNQ1 sequence variant V310I (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Val-310 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-310, CHEBI:30009." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:V310I" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Val-310, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 13 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009926
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000868
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G345R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-345 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-345, CHEBI:29952." [PMID:10220144, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within segment S6.
synonym: "hKCNQ1/var:G345R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-345, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 56 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008126
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000869
name: voltage-gated potassium channel subunit KCNQ1 sequence variant E261K (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Lys residue at the position equivalent to Glu-261 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Glu-261, CHEBI:29967." [PMID:10409658, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located at the end of the intracellular loop connecting segments S4 and S5.
synonym: "hKCNQ1/var:E261K" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Glu-261, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 57 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001523
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000848
name: voltage-gated potassium channel subunit KCNQ1 sequence variant D242N (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asn residue at the position equivalent to Asp-242 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Asp-242, CHEBI:50347." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within the segment S2.
synonym: "hKCNQ1/var:D242N" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Asp-242, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 38 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008940
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000728
name: voltage-gated potassium channel subunit KCNQ1
def: "A voltage-gated potassium channel subunit KQT that is a translation product of the human KCNQ1 gene or a 1:1 ortholog thereof." [PRO:CNA]
comment: Category=gene.
synonym: "KCNA8" RELATED Gene-based []
synonym: "KCNA9" RELATED Gene-based []
synonym: "KCNQ1" EXACT PRO-short-label [PRO:DNx]
synonym: "KVLQT1" RELATED Gene-based []
synonym: "KQT-like 1" EXACT []
synonym: "voltage-gated potassium channel subunit Kv7.1" EXACT []
synonym: "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1" EXACT []
xref: IUPHARobj:560
xref: PIRSF:PIRSF500964
is_a: PR:000000684 ! voltage-gated potassium channel subunit KQT

[Term]
id: PR:P51787
name: potassium voltage-gated channel subfamily KQT member 1 (human)
def: "A voltage-gated potassium channel subunit KCNQ1 that is encoded in the genome of human." [PRO:CNA, UniProtKB:P51787]
comment: Category=organism-gene.
synonym: "KCNA8" RELATED Gene-based [UniProtKB:P51787]
synonym: "KCNA9" RELATED Gene-based [UniProtKB:P51787]
synonym: "KCNQ1" RELATED Gene-based [UniProtKB:P51787]
synonym: "KVLQT1" RELATED Gene-based [UniProtKB:P51787]
synonym: "hKCNQ1" EXACT PRO-short-label [PRO:DNx]
synonym: "KQT-like 1 (human)" EXACT [UniProtKB:P51787]
synonym: "voltage-gated potassium channel subunit Kv7.1 (human)" EXACT [UniProtKB:P51787]
synonym: "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1 (human)" EXACT [UniProtKB:P51787]
xref: Reactome:R-HSA-977517 "PR:P51787 located_in GO:0005886"
xref: DTO:01100232
xref: UniProtKB:P51787
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000728 ! voltage-gated potassium channel subunit KCNQ1
relationship: has_gene_template HGNC:6294 ! KCNQ1 (human)

[Term]
id: PR:000000844
name: voltage-gated potassium channel subunit KCNQ1 sequence variant A344V (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Val residue at the position equivalent to Ala-344 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-344, CHEBI:30015." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:A344V" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ala-344, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 34 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001541
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000845
name: voltage-gated potassium channel subunit KCNQ1 sequence variant A525T (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Thr residue at the position equivalent to Ala-525 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-525, CHEBI:30013." [PMID:10482963, PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:A525T" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ala-525, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 35 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009181
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000846
name: voltage-gated potassium channel subunit KCNQ1 sequence variant A341E (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Glu residue at the position equivalent to Ala-341 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-341, CHEBI:29972." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:A341E" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ala-341, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 36 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001538
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000847
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R583C (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-583 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-583, CHEBI:29950." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:R583C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-583, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 37 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009933
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000840
name: voltage-gated potassium channel subunit KCNQ1 sequence variant L250H (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-250, CHEBI:29979." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:L250H" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Leu-250, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 30 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008943
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000841
name: voltage-gated potassium channel subunit KCNQ1 sequence variant S349W (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Ser-349 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-349, CHEBI:29954." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:S349W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ser-349, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 31 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009928
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000842
name: voltage-gated potassium channel subunit KCNQ1 sequence variant T391I (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Thr-391 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-391, CHEBI:30009." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:T391I" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Thr-391, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 32 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009930
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000843
name: voltage-gated potassium channel subunit KCNQ1 sequence variant K318N (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asn residue at the position equivalent to Lys-318 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Lys-318, CHEBI:50347." [PMID:10704188, PMID:9693036, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:K318N" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Lys-318, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 33 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008947
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000879
name: voltage-gated potassium channel subunit KCNQ1 sequence variant L273F (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Phe residue at the position equivalent to Leu-273 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-273, CHEBI:29997." [PMID:9323054, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within the segment S5.
synonym: "hKCNQ1/var:L273F" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Leu-273, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 66 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001525
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000865
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R366Q (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gln residue at the position equivalent to Arg-366 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-366, CHEBI:30011." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:R366Q" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-366, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 53 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009929
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000881
name: voltage-gated potassium channel subunit KCNQ1 sequence variant P320A (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ala residue at the position equivalent to Pro-320 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Pro-320, CHEBI:46217." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:P320A" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Pro-320, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 68 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001535
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P51787-1
name: potassium voltage-gated channel subfamily KQT member 1 isoform 1 (human)
def: "A voltage-gated potassium channel subunit KCNQ1 isoform 1 that is encoded in the genome of human." [PRO:CNA]
comment: Category=organism-sequence. Requested by=PubChem.
synonym: "hKCNQ1/iso:1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P51787-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000815 ! voltage-gated potassium channel subunit KCNQ1 isoform 1

[Term]
id: PR:000000871
name: voltage-gated potassium channel subunit KCNQ1 sequence variant F339del (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a single-residue deletion at the position equivalent to Phe-339 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P49747-1, 21-338, 340-757." [PMID:9702906, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within segment S6.
synonym: "deltaF339" RELATED []
synonym: "hKCNQ1/var:F339del" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P49747-1, 21-338, 340-757" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 59 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001537
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000890
name: voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Thr-312 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-312, CHEBI:30009." [PMID:10409658, PMID:9323054, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:T312I" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Thr-312, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 9 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001530
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000870
name: voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Leu residue at the position equivalent to Val-307 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-307, CHEBI:30006." [PMID:15159330, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:V307L" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Val-307, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_023841
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000860
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gln residue at the position equivalent to Arg-190 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-190, CHEBI:30011." [PMID:10704188, PMID:10728423, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:R190Q" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-190, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 49 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001520
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000874
name: voltage-gated potassium channel subunit KCNQ1 sequence variant A300T (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Thr residue at the position equivalent to Ala-300 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-300, CHEBI:30013." [PMID:9641694, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:A300T" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ala-300, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 61 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001526
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000878
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R594Q (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gln residue at the position equivalent to Arg-594 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-594, CHEBI:30011." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:R594Q" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-594, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 65 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009934
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000885
name: voltage-gated potassium channel subunit KCNQ1 sequence variant W392R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Trp-392 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-392, CHEBI:29952." [PMID:10220144, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:W392R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Trp-392, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 71 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008128
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000839
name: voltage-gated potassium channel subunit KCNQ1 sequence variant A341V (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Val residue at the position equivalent to Ala-341 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-341, CHEBI:30015." [PMID:10704188, PMID:8818942, PMID:8872472, PMID:9570196, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within the S6 segment.
synonym: "hKCNQ1/var:A341V" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ala-341, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 3 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001539
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000838
name: voltage-gated potassium channel subunit KCNQ1 sequence variant 29 (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a three-residue deletion at the positions equivalent to 71-73 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P49747-1, 21-70, 74-757." [PRO:CNA, PRO:DAN, UniProtKB:P51787]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:29" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P49747-1, 21-70, 74-757" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_009917
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P51787-2
name: potassium voltage-gated channel subfamily KQT member 1 isoform 2 (human)
def: "A voltage-gated potassium channel subunit KCNQ1 isoform 2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P51787]
comment: Category=organism-sequence.
synonym: "hKCNQ1/iso:2" EXACT PRO-short-label [PRO:DNx]
synonym: "potassium voltage-gated channel subfamily KQT member 1 isoform TKvLQT1 (human)" EXACT [UniProtKB:P51787]
xref: UniProtKB:P51787-2
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000816 ! voltage-gated potassium channel subunit KCNQ1 isoform 2

[Term]
id: PR:000000831
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R366W (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Arg-366 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-366, CHEBI:29954." [PMID:10704188, PMID:9693036, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:R366W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-366, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 22 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008948
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000830
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R591H (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Arg-591 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-591, CHEBI:29979." [PMID:10024302, PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:R591H" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-591, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 21 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008953
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000833
name: voltage-gated potassium channel subunit KCNQ1 sequence variant Y111C (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Tyr-111 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-111, CHEBI:29950." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic N terminus.
synonym: "hKCNQ1/var:Y111C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Tyr-111, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 24 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009918
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000832
name: voltage-gated potassium channel subunit KCNQ1 sequence variant I313M (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Ile-313 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ile-313, CHEBI:16044." [PMID:10704188, PMID:9024139, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:I313M" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ile-313, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 23 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001531
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000835
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G168R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-168 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-168, CHEBI:29952." [PMID:9693036, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located at the end of segment S2.
synonym: "hKCNQ1/var:G168R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-168, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 26 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001516
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000834
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R533W (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Arg-533 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-533, CHEBI:29954." [PMID:10728423, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:R533W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-533, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 25 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008949
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000837
name: voltage-gated potassium channel subunit KCNQ1 sequence variant A371T (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Thr residue at the position equivalent to Ala-371 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-371, CHEBI:30013." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:A371T" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ala-371, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 28 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001544
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000836
name: voltage-gated potassium channel subunit KCNQ1 sequence variant E261D (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asp residue at the position equivalent to Glu-261 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Glu-261, CHEBI:29958." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
comment: Category=organism-sequence. Note: This residue is located at the end of the intracellular loop connecting segments S4 and S5.
synonym: "hKCNQ1/var:E261D" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Glu-261, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 27 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008944
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000875
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R174C (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-174 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-174, CHEBI:29950." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the loop connecting segments S2 and S3.
synonym: "hKCNQ1/var:R174C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-174, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 62 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001517
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000873
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G179S (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Gly-179 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-179, CHEBI:29999." [PMID:10728423, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the loop connecting segments S2 and S3.
synonym: "hKCNQ1/var:G179S" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-179, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 60 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009921
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000877
name: voltage-gated potassium channel subunit KCNQ1 sequence variant L266P (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Leu-266 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-266, CHEBI:50342." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within the segment S5.
synonym: "hKCNQ1/var:L266P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Leu-266, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 64 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009924
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000876
name: voltage-gated potassium channel subunit KCNQ1 sequence variant W305S (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Trp-305 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-305, CHEBI:29999." [PMID:9781056, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:W305S" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Trp-305, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 63 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001527
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000817
name: voltage-gated potassium channel subunit KCNQ1 sequence variant T587M (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Thr-587 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-587, CHEBI:16044." [PMID:10024302, PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:T587M" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Thr-587, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 1 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008951
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000861
name: voltage-gated potassium channel subunit KCNQ1 sequence variant T311I (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Thr-311 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-311, CHEBI:30009." [PMID:9482580, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:T311I" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Thr-311, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 5 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009927
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000859
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G345E (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Glu residue at the position equivalent to Gly-345 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-345, CHEBI:29972." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within segment S6.
synonym: "hKCNQ1/var:G345E" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-345, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 48 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001542
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000858
name: voltage-gated potassium channel subunit KCNQ1 sequence variant Y184S (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Tyr-184 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-184, CHEBI:29999." [PMID:10220144, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the loop between segments S2 and S3.
synonym: "hKCNQ1/var:Y184S" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Tyr-184, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 47 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008125
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000857
name: voltage-gated potassium channel subunit KCNQ1 sequence variant A194P (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Ala-194 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-194, CHEBI:50342." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the loop between segments S2 and S3.
synonym: "hKCNQ1/var:A194P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ala-194, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 46 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009922
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000856
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R174H (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Arg-174 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-174, CHEBI:29979." [PMID:10367071, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the loop between segments S2 and S3.
synonym: "hKCNQ1/var:R174H" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-174, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 45 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008939
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000819
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R243C (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-243 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-243, CHEBI:29950." [PMID:10409658, PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:R243C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-243, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 11 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_010933
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000818
name: voltage-gated potassium channel subunit KCNQ1 sequence variant S373P (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Ser-373 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-373, CHEBI:50342." [PMID:10220144, PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ1/var:S373P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ser-373, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 10 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008127
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000853
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R555C (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-555 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-555, CHEBI:29950." [PMID:10704188, PMID:9386136, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the cytoplasmic C-terminus.
synonym: "hKCNQ1/var:R555C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-555, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 42 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001545
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000852
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G269S (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Gly-269 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-269, CHEBI:29999." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within segment S5.
synonym: "hKCNQ1/var:G269S" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-269, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 41 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_009925
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000851
name: voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gly residue at the position equivalent to Ser-140 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-140, CHEBI:29947." [PMID:12522251, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the segment S1.
synonym: "hKCNQ1/var:S140G" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Ser-140, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_015742
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000850
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G306R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-306 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-306, CHEBI:29952." [PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:G306R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-306, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 4 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001528
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000862
name: voltage-gated potassium channel subunit KCNQ1 sequence variant G314S (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Gly-314 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-314, CHEBI:29999." [PMID:8872472, PMID:9693036, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:G314S" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Gly-314, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 50 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001532
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000863
name: voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Trp-248 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-248, CHEBI:29952." [PMID:10409658, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located within segment S4. This amino acid change affects the interaction with other channel subunits.
synonym: "hKCNQ1/var:W248R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Trp-248, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008942
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000855
name: voltage-gated potassium channel subunit KCNQ1 sequence variant Y315S (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Tyr-315 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-315, CHEBI:29999." [PMID:10220144, PMID:10704188, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the pore region between segments S5 and S6.
synonym: "hKCNQ1/var:Y315S" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Tyr-315, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 44 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_001533
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000872
name: voltage-gated potassium channel subunit KCNQ1 sequence variant R243H (human)
def: "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Arg-243 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-243, CHEBI:29979." [PMID:10728423, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in segment S4.
synonym: "hKCNQ1/var:R243H" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P51787-1, Arg-243, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ1 sequence variant 6 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_008941
is_a: PR:P51787 ! potassium voltage-gated channel subfamily KQT member 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens