PR:000037627 presenilin-1 sequence variant G183V (human) hPSEN1/var:G183V|UniProtKB:P49768-1, Gly-183, CHEBI:30015 associated_with_disease_progression DOID:680 tauopathy Alzforum:psen1-g183v EXP NCBITaxon:9606 Alzforum:psen1-g183v 20180510 PRO:DAN PR:000037651 presenilin-1 sequence variant A231V (human) hPSEN1/var:A231V|UniProtKB:P49768-1, Ala-231, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a231v EXP NCBITaxon:9606 Alzforum:psen1-a231v 20180510 PRO:DAN PR:000045469 presenilin-1 sequence variant E273G (human) hPSEN1/var:E273G|UniProtKB:P49768-1, Glu-273, CHEBI:29947 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e273g EXP NCBITaxon:9606 Alzforum:psen1-e273g 20180510 PRO:DAN PR:000037670 presenilin-1 sequence variant A260V (human) hPSEN1/var:A260V|UniProtKB:P49768-1, Ala-260, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a260v EXP NCBITaxon:9606 Alzforum:psen1-a260v 20180510 PRO:DAN PR:000037732 presenilin-1 sequence variant A431E (human) hPSEN1/var:A431E|Jalisco PSEN1|UniProtKB:P49768-1, Ala-431, CHEBI:29972 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a431e-jalisco EXP NCBITaxon:9606 Alzforum:psen1-a431e-jalisco 20180510 PRO:DAN PR:000037569 presenilin-1 sequence variant L113Q (human) hPSEN1/var:L113Q|UniProtKB:P49768-1, Leu-113, CHEBI:30011 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l113q EXP NCBITaxon:9606 Alzforum:psen1-l113q 20180510 PRO:DAN PR:000037648 presenilin-1 sequence variant Q223R (human) hPSEN1/var:Q223R|UniProtKB:P49768-1, Gln-223, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-q223r EXP NCBITaxon:9606 Alzforum:psen1-q223r 20180510 PRO:DAN PR:000045462 presenilin-1 sequence variant L226F (human) hPSEN1/var:L226F|UniProtKB:P49768-1, Leu-226, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l226f EXP NCBITaxon:9606 Alzforum:psen1-l226f 20180510 PRO:DAN PR:000037678 presenilin-1 sequence variant P267S (human) hPSEN1/var:P267S|UniProtKB:P49768-1, Pro-267, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p267s EXP NCBITaxon:9606 Alzforum:psen1-p267s 20180510 PRO:DAN PR:000037685 presenilin-1 sequence variant T274R (human) hPSEN1/var:T274R|UniProtKB:P49768-1, Thr-274, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-t274r EXP NCBITaxon:9606 Alzforum:psen1-t274r 20180510 PRO:DAN PR:000037645 presenilin-1 sequence variant L219P (human) hPSEN1/var:L219P|UniProtKB:P49768-1, Leu-219, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l219p EXP NCBITaxon:9606 Alzforum:psen1-l219p 20180510 PRO:DAN PR:000037740 presenilin-1 sequence variant T440del (human) hPSEN1/var:T440del|UniProtKB:P49768-1, 1-439, 441-467 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-t440del EXP NCBITaxon:9606 Alzforum:psen1-t440del 20180510 PRO:DAN PR:000037736 presenilin-1 sequence variant P436S (human) hPSEN1/var:P436S|UniProtKB:P49768-1, Pro-436, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p436s EXP NCBITaxon:9606 Alzforum:psen1-p436s 20180510 PRO:DAN PR:000045453 presenilin-1 sequence variant L134R (human) hPSEN1/var:L134R|UniProtKB:P49768-1, Leu-134, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l134r EXP NCBITaxon:9606 Alzforum:psen1-l134r 20180510 PRO:DAN PR:000037640 presenilin-1 sequence variant H214Y (human) hPSEN1/var:H214Y|UniProtKB:P49768-1, His-214, CHEBI:46858 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-h214y EXP NCBITaxon:9606 Alzforum:psen1-h214y 20180510 PRO:DAN PR:000037577 presenilin-1 sequence variant P117R (human) hPSEN1/var:P117R|UniProtKB:P49768-1, Pro-117, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p117r EXP NCBITaxon:9606 Alzforum:psen1-p117r 20180510 PRO:DAN PR:000037654 presenilin-1 sequence variant M233T (human) hPSEN1/var:M233T|UniProtKB:P49768-1, Met-233, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m233t EXP NCBITaxon:9606 Alzforum:psen1-m233t 20180510 PRO:DAN PR:000045459 presenilin-1 sequence variant E184G (human) hPSEN1/var:E184G|UniProtKB:P49768-1, Glu-184, CHEBI:29947 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e184g EXP NCBITaxon:9606 Alzforum:psen1-e184g 20180510 PRO:DAN PR:000037615 presenilin-1 sequence variant S169L (human) hPSEN1/var:S169L|UniProtKB:P49768-1, Ser-169, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s169l EXP NCBITaxon:9606 Alzforum:psen1-s169l 20180510 PRO:DAN PR:000037728 presenilin-1 sequence variant L424F (human) hPSEN1/var:L424F|UniProtKB:P49768-1, Leu-424, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l424f EXP NCBITaxon:9606 Alzforum:psen1-l424f 20180510 PRO:DAN PR:000037692 presenilin-1 sequence variant E280G (human) hPSEN1/var:E280G|UniProtKB:P49768-1, Glu-280, CHEBI:29947 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e280g EXP NCBITaxon:9606 Alzforum:psen1-e280g 20180510 PRO:DAN PR:000037655 presenilin-1 sequence variant M233I (human) hPSEN1/var:M233I|UniProtKB:P49768-1, Met-233, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m233i-gcDUPE EXP NCBITaxon:9606 Alzforum:psen1-m233i-gcDUPE 20180510 PRO:DAN PR:000037668 presenilin-1 sequence variant L250V (human) hPSEN1/var:L250V|UniProtKB:P49768-1, Leu-250, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l250v EXP NCBITaxon:9606 Alzforum:psen1-l250v 20180510 PRO:DAN PR:000037591 presenilin-1 sequence variant I143N (human) hPSEN1/var:I143N|UniProtKB:P49768-1, Ile-143, CHEBI:50347 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i143n EXP NCBITaxon:9606 Alzforum:psen1-i143n 20180510 PRO:DAN PR:000037643 presenilin-1 sequence variant G217R (human) hPSEN1/var:G217R|UniProtKB:P49768-1, Gly-217, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g217r EXP NCBITaxon:9606 Alzforum:psen1-g217r 20180510 PRO:DAN PR:000037567 presenilin-1 sequence variant F105C (human) hPSEN1/var:F105C|UniProtKB:P49768-1, Phe-105, CHEBI:29950 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f105c EXP NCBITaxon:9606 Alzforum:psen1-f105c 20180510 PRO:DAN PR:000037719 presenilin-1 sequence variant G394V (human) hPSEN1/var:G394V|UniProtKB:P49768-1, Gly-394, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g394v EXP NCBITaxon:9606 Alzforum:psen1-g394v 20180510 PRO:DAN PR:000037606 presenilin-1 sequence variant H163R (human) hPSEN1/var:H163R|UniProtKB:P49768-1, His-163, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-h163r EXP NCBITaxon:9606 Alzforum:psen1-h163r 20180510 PRO:DAN PR:000037584 presenilin-1 sequence variant N135D (human) hPSEN1/var:N135D|UniProtKB:P49768-1, Asn-135, CHEBI:29958 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-n135d EXP NCBITaxon:9606 Alzforum:psen1-n135d 20180510 PRO:DAN PR:000037689 presenilin-1 sequence variant R278T (human) hPSEN1/var:R278T|UniProtKB:P49768-1, Arg-278, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r278t EXP NCBITaxon:9606 Alzforum:psen1-r278t 20180510 PRO:DAN PR:000037705 presenilin-1 sequence variant R358Q (human) hPSEN1/var:R358Q|UniProtKB:P49768-1, Arg-358, CHEBI:30011 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r358q EXP NCBITaxon:9606 Alzforum:psen1-r358q 20180510 PRO:DAN PR:000044555 presenilin-1 sequence variant I408T (human) hPSEN1/var:I408T|UniProtKB:P49768-1, Ile-408, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i408t EXP NCBITaxon:9606 Alzforum:psen1-i408t 20180510 PRO:DAN PR:000037614 presenilin-1 sequence variant I168del (human) hPSEN1/var:I168del|UniProtKB:P49768-1, 1-167, 169-467 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i168del EXP NCBITaxon:9606 Alzforum:psen1-i168del 20180510 PRO:DAN PR:000037598 presenilin-1 sequence variant M146V (human) hPSEN1/var:M146V|UniProtKB:P49768-1, Met-146, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146v EXP NCBITaxon:9606 Alzforum:psen1-m146v 20180510 PRO:DAN PR:000045465 presenilin-1 sequence variant A231P (human) hPSEN1/var:A231P|UniProtKB:P49768-1, Ala-231, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a231p EXP NCBITaxon:9606 Alzforum:psen1-a231p 20180510 PRO:DAN PR:000037735 presenilin-1 sequence variant L435F (human) hPSEN1/var:L435F|UniProtKB:P49768-1, Leu-435, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l435f EXP NCBITaxon:9606 Alzforum:psen1-l435f 20180510 PRO:DAN PR:000037646 presenilin-1 sequence variant Q222R (human) hPSEN1/var:Q222R|UniProtKB:P49768-1, Gln-222, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-q222r EXP NCBITaxon:9606 Alzforum:psen1-q222r 20180510 PRO:DAN PR:000037602 presenilin-1 sequence variant Y154N (human) hPSEN1/var:Y154N|UniProtKB:P49768-1, Tyr-154, CHEBI:50347 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-y154n EXP NCBITaxon:9606 Alzforum:psen1-y154n 20180510 PRO:DAN PR:000037596 presenilin-1 sequence variant M146L (human) hPSEN1/var:M146L|UniProtKB:P49768-1, Met-146, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146l-acDUPE EXP NCBITaxon:9606 Alzforum:psen1-m146l-acDUPE 20180510 PRO:DAN PR:000037621 presenilin-1 sequence variant L174R (human) hPSEN1/var:L174R|UniProtKB:P49768-1, Leu-174, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l174r EXP NCBITaxon:9606 Alzforum:psen1-l174r 20180510 PRO:DAN PR:000037597 presenilin-1 sequence variant M146I (human) hPSEN1/var:M146I|UniProtKB:P49768-1, Met-146, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146i-gcDUPE EXP NCBITaxon:9606 Alzforum:psen1-m146i-gcDUPE 20180510 PRO:DAN PR:000037631 presenilin-1 sequence variant G206S (human) hPSEN1/var:G206S|UniProtKB:P49768-1, Gly-206, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g206s EXP NCBITaxon:9606 Alzforum:psen1-g206s 20180510 PRO:DAN PR:000037681 presenilin-1 sequence variant R269G (human) hPSEN1/var:R269G|UniProtKB:P49768-1, Arg-269, CHEBI:29947 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r269g EXP NCBITaxon:9606 Alzforum:psen1-r269g 20180510 PRO:DAN PR:000037597 presenilin-1 sequence variant M146I (human) hPSEN1/var:M146I|UniProtKB:P49768-1, Met-146, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146i-gtDUPE EXP NCBITaxon:9606 Alzforum:psen1-m146i-gtDUPE 20180510 PRO:DAN PR:000037699 presenilin-1 sequence variant L286V (human) hPSEN1/var:L286V|UniProtKB:P49768-1, Leu-286, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l286v EXP NCBITaxon:9606 Alzforum:psen1-l286v 20180510 PRO:DAN PR:000037609 presenilin-1 sequence variant L166R (human) hPSEN1/var:L166R|UniProtKB:P49768-1, Leu-166, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l166r EXP NCBITaxon:9606 Alzforum:psen1-l166r 20180510 PRO:DAN PR:000037594 presenilin-1 sequence variant I143T (human) hPSEN1/var:I143T|UniProtKB:P49768-1, Ile-143, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i143t EXP NCBITaxon:9606 Alzforum:psen1-i143t 20180510 PRO:DAN PR:000037634 presenilin-1 sequence variant G209E (human) hPSEN1/var:G209E|UniProtKB:P49768-1, Gly-209, CHEBI:29972 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g209e EXP NCBITaxon:9606 Alzforum:psen1-g209e 20180510 PRO:DAN PR:000037733 presenilin-1 sequence variant A434C (human) hPSEN1/var:A434C|UniProtKB:P49768-1, Ala-434, CHEBI:29950 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a434c EXP NCBITaxon:9606 Alzforum:psen1-a434c 20180510 PRO:DAN PR:000037637 presenilin-1 sequence variant S212Y (human) hPSEN1/var:S212Y|UniProtKB:P49768-1, Ser-212, CHEBI:46858 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s212y EXP NCBITaxon:9606 Alzforum:psen1-s212y 20180510 PRO:DAN PR:000037568 presenilin-1 sequence variant F105L (human) hPSEN1/var:F105L|UniProtKB:P49768-1, Phe-105, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f105l EXP NCBITaxon:9606 Alzforum:psen1-f105l 20180510 PRO:DAN PR:000037642 presenilin-1 sequence variant G217D (human) hPSEN1/var:G217D|UniProtKB:P49768-1, Gly-217, CHEBI:29958 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g217d EXP NCBITaxon:9606 Alzforum:psen1-g217d 20180510 PRO:DAN PR:000045468 presenilin-1 sequence variant L262V (human) hPSEN1/var:L262V|UniProtKB:P49768-1, Leu-262, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l262v EXP NCBITaxon:9606 Alzforum:psen1-l262v 20180510 PRO:DAN PR:000037667 presenilin-1 sequence variant L250S (human) hPSEN1/var:L250S|UniProtKB:P49768-1, Leu-250, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l250s EXP NCBITaxon:9606 Alzforum:psen1-l250s 20180510 PRO:DAN PR:000037726 presenilin-1 sequence variant L424H (human) hPSEN1/var:L424H|UniProtKB:P49768-1, Leu-424, CHEBI:29979 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l424h EXP NCBITaxon:9606 Alzforum:psen1-l424h 20180510 PRO:DAN PR:000037618 presenilin-1 sequence variant L171P (human) hPSEN1/var:L171P|UniProtKB:P49768-1, Leu-171, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l171p EXP NCBITaxon:9606 Alzforum:psen1-l171p 20180510 PRO:DAN PR:000037604 presenilin-1 sequence variant H163Y (human) hPSEN1/var:H163Y|UniProtKB:P49768-1, His-163, CHEBI:46858 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-h163y EXP NCBITaxon:9606 Alzforum:psen1-h163y 20180510 PRO:DAN PR:000037622 presenilin-1 sequence variant L174M (human) hPSEN1/var:L174M|UniProtKB:P49768-1, Leu-174, CHEBI:16044 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l174m EXP NCBITaxon:9606 Alzforum:psen1-l174m 20180510 PRO:DAN PR:000037669 presenilin-1 sequence variant Y256S (human) hPSEN1/var:Y256S|UniProtKB:P49768-1, Tyr-256, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-y256s EXP NCBITaxon:9606 Alzforum:psen1-y256s 20180510 PRO:DAN PR:000037682 presenilin-1 sequence variant L271V (human) hPSEN1/var:L271V|UniProtKB:P49768-1, Leu-271, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l271v EXP NCBITaxon:9606 Alzforum:psen1-l271v 20180510 PRO:DAN PR:000044551 presenilin-1 sequence variant F386I (human) hPSEN1/var:F386I|UniProtKB:P49768-1, Phe-386, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f386i EXP NCBITaxon:9606 Alzforum:psen1-f386i 20180510 PRO:DAN PR:000037674 presenilin-1 sequence variant C263R (human) hPSEN1/var:C263R|UniProtKB:P49768-1, Cys-263, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-c263r EXP NCBITaxon:9606 Alzforum:psen1-c263r 20180510 PRO:DAN PR:000037696 presenilin-1 sequence variant P284L (human) hPSEN1/var:P284L|UniProtKB:P49768-1, Pro-284, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p284l EXP NCBITaxon:9606 Alzforum:psen1-p284l 20180510 PRO:DAN PR:000044553 presenilin-1 sequence variant G209A (human) hPSEN1/var:G209A|UniProtKB:P49768-1, Gly-209, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g209a EXP NCBITaxon:9606 Alzforum:psen1-g209a 20180510 PRO:DAN PR:000037691 presenilin-1 sequence variant E280A (human) hPSEN1/var:E280A|Paisa PSEN1|UniProtKB:P49768-1, Glu-280, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e280a-paisa EXP NCBITaxon:9606 Alzforum:psen1-e280a-paisa 20180510 PRO:DAN PR:000037589 presenilin-1 sequence variant M139K (human) hPSEN1/var:M139K|UniProtKB:P49768-1, Met-139, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m139k EXP NCBITaxon:9606 Alzforum:psen1-m139k 20180510 PRO:DAN PR:000037715 presenilin-1 sequence variant S390I (human) hPSEN1/var:S390I|UniProtKB:P49768-1, Ser-390, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s390i EXP NCBITaxon:9606 Alzforum:psen1-s390i 20180510 PRO:DAN PR:000037580 presenilin-1 sequence variant E120K (human) hPSEN1/var:E120K|UniProtKB:P49768-1, Glu-120, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e120k EXP NCBITaxon:9606 Alzforum:psen1-e120k 20180510 PRO:DAN PR:000037607 presenilin-1 sequence variant W165G (human) hPSEN1/var:W165G|UniProtKB:P49768-1, Trp-165, CHEBI:29947 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-w165g EXP NCBITaxon:9606 Alzforum:psen1-w165g 20180510 PRO:DAN PR:000037652 presenilin-1 sequence variant A231T (human) hPSEN1/var:A231T|UniProtKB:P49768-1, Ala-231, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a231t EXP NCBITaxon:9606 Alzforum:psen1-a231t 20180510 PRO:DAN PR:000037592 presenilin-1 sequence variant I143V (human) hPSEN1/var:I143V|UniProtKB:P49768-1, Ile-143, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i143v EXP NCBITaxon:9606 Alzforum:psen1-i143v 20180510 PRO:DAN PR:000037660 presenilin-1 sequence variant F237I (human) hPSEN1/var:F237I|UniProtKB:P49768-1, Phe-237, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f237i EXP NCBITaxon:9606 Alzforum:psen1-f237i 20180510 PRO:DAN PR:000037576 presenilin-1 sequence variant P117S (human) hPSEN1/var:P117S|UniProtKB:P49768-1, Pro-117, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p117s EXP NCBITaxon:9606 Alzforum:psen1-p117s 20180510 PRO:DAN PR:000044556 presenilin-1 sequence variant N135Y (human) hPSEN1/var:N135Y|UniProtKB:P49768-1, Asn-135, CHEBI:46858 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-n135y EXP NCBITaxon:9606 Alzforum:psen1-n135y 20180510 PRO:DAN PR:000045456 presenilin-1 sequence variant L166V (human) hPSEN1/var:L166V|UniProtKB:P49768-1, Leu-166, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l166v EXP NCBITaxon:9606 Alzforum:psen1-l166v 20180510 PRO:DAN PR:000037565 presenilin-1 sequence variant F105I (human) hPSEN1/var:F105I|UniProtKB:P49768-1, Phe-105, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f105i EXP NCBITaxon:9606 Alzforum:psen1-f105i 20180510 PRO:DAN PR:000037644 presenilin-1 sequence variant L219F (human) hPSEN1/var:L219F|UniProtKB:P49768-1, Leu-219, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l219f EXP NCBITaxon:9606 Alzforum:psen1-l219f 20180510 PRO:DAN PR:000037701 presenilin-1 sequence variant T291P (human) hPSEN1/var:T291P|UniProtKB:P49768-1, Thr-291, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-t291p EXP NCBITaxon:9606 Alzforum:psen1-t291p 20180510 PRO:DAN PR:000037655 presenilin-1 sequence variant M233I (human) hPSEN1/var:M233I|UniProtKB:P49768-1, Met-233, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m233i-ga EXP NCBITaxon:9606 Alzforum:psen1-m233i-ga 20180510 PRO:DAN PR:000045460 presenilin-1 sequence variant I202F (human) hPSEN1/var:I202F|UniProtKB:P49768-1, Ile-202, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i202f EXP NCBITaxon:9606 Alzforum:psen1-i202f 20180510 PRO:DAN PR:000037650 presenilin-1 sequence variant I229F (human) hPSEN1/var:I229F|UniProtKB:P49768-1, Ile-229, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i229f EXP NCBITaxon:9606 Alzforum:psen1-i229f 20180510 PRO:DAN PR:000037672 presenilin-1 sequence variant V261L (human) hPSEN1/var:V261L|UniProtKB:P49768-1, Val-261, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v261l EXP NCBITaxon:9606 Alzforum:psen1-v261l 20180510 PRO:DAN PR:000037656 presenilin-1 sequence variant M233V (human) hPSEN1/var:M233V|UniProtKB:P49768-1, Met-233, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m233v EXP NCBITaxon:9606 Alzforum:psen1-m233v 20180510 PRO:DAN PR:000037613 presenilin-1 sequence variant I167del (human) hPSEN1/var:I167del|UniProtKB:P49768-1, 1-166, 168-467 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i167del EXP NCBITaxon:9606 Alzforum:psen1-i167del 20180510 PRO:DAN PR:000045454 presenilin-1 sequence variant L150P (human) hPSEN1/var:L150P|UniProtKB:P49768-1, Leu-150, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l150p EXP NCBITaxon:9606 Alzforum:psen1-l150p 20180510 PRO:DAN PR:000037725 presenilin-1 sequence variant L420R (human) hPSEN1/var:L420R|UniProtKB:P49768-1, Leu-420, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l420r EXP NCBITaxon:9606 Alzforum:psen1-l420r 20180510 PRO:DAN PR:000037630 presenilin-1 sequence variant G206A (human) hPSEN1/var:G206A|UniProtKB:P49768-1, Gly-206, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g206a EXP NCBITaxon:9606 Alzforum:psen1-g206a 20180510 PRO:DAN PR:000037599 presenilin-1 sequence variant T147P (human) hPSEN1/var:T147P|UniProtKB:P49768-1, Thr-147, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-t147p EXP NCBITaxon:9606 Alzforum:psen1-t147p 20180510 PRO:DAN PR:000037665 presenilin-1 sequence variant L248R (human) hPSEN1/var:L248R|UniProtKB:P49768-1, Leu-248, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l248r EXP NCBITaxon:9606 Alzforum:psen1-l248r 20180510 PRO:DAN PR:000037690 presenilin-1 sequence variant R278S (human) hPSEN1/var:R278S|UniProtKB:P49768-1, Arg-278, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r278s EXP NCBITaxon:9606 Alzforum:psen1-r278s 20180510 PRO:DAN PR:000037717 presenilin-1 sequence variant L392V (human) hPSEN1/var:L392V|UniProtKB:P49768-1, Leu-392, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l392v EXP NCBITaxon:9606 Alzforum:psen1-l392v 20180510 PRO:DAN PR:000037659 presenilin-1 sequence variant F237L (human) hPSEN1/var:F237L|UniProtKB:P49768-1, Phe-237, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f237l EXP NCBITaxon:9606 Alzforum:psen1-f237l 20180510 PRO:DAN PR:000037658 presenilin-1 sequence variant L235V (human) hPSEN1/var:L235V|UniProtKB:P49768-1, Leu-235, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l235v EXP NCBITaxon:9606 Alzforum:psen1-l235v 20180510 PRO:DAN PR:000037716 presenilin-1 sequence variant V391F (human) hPSEN1/var:V391F|UniProtKB:P49768-1, Val-391, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v391f EXP NCBITaxon:9606 Alzforum:psen1-v391f 20180510 PRO:DAN PR:000037721 presenilin-1 sequence variant A409T (human) hPSEN1/var:A409T|UniProtKB:P49768-1, Ala-409, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a409t EXP NCBITaxon:9606 Alzforum:psen1-a409t 20180510 PRO:DAN PR:000037624 presenilin-1 sequence variant F177S (human) hPSEN1/var:F177S|UniProtKB:P49768-1, Phe-177, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f177s EXP NCBITaxon:9606 Alzforum:psen1-f177s 20180510 PRO:DAN PR:000037562 presenilin-1 sequence variant V94M (human) hPSEN1/var:V94M|UniProtKB:P49768-1, Val-94, CHEBI:16044 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v94m EXP NCBITaxon:9606 Alzforum:psen1-v94m 20180510 PRO:DAN PR:000037557 presenilin-1 sequence variant A79V (human) hPSEN1/var:A79V|UniProtKB:P49768-1, Ala-79, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a79v EXP NCBITaxon:9606 Alzforum:psen1-a79v 20180510 PRO:DAN PR:000037572 presenilin-1 sequence variant Y115C (human) hPSEN1/var:Y115C|UniProtKB:P49768-1, Tyr-115, CHEBI:29950 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-y115c EXP NCBITaxon:9606 Alzforum:psen1-y115c 20180510 PRO:DAN PR:000037695 presenilin-1 sequence variant L282R (human) hPSEN1/var:L282R|UniProtKB:P49768-1, Leu-282, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l282r EXP NCBITaxon:9606 Alzforum:psen1-l282r 20180510 PRO:DAN PR:000037671 presenilin-1 sequence variant V261F (human) hPSEN1/var:V261F|UniProtKB:P49768-1, Val-261, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v261f EXP NCBITaxon:9606 Alzforum:psen1-v261f 20180510 PRO:DAN PR:000037573 presenilin-1 sequence variant Y115D (human) hPSEN1/var:Y115D|UniProtKB:P49768-1, Tyr-115, CHEBI:29958 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-y115d EXP NCBITaxon:9606 Alzforum:psen1-y115d 20180510 PRO:DAN PR:000037574 presenilin-1 sequence variant T116I (human) hPSEN1/var:T116I|UniProtKB:P49768-1, Thr-116, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-t116i EXP NCBITaxon:9606 Alzforum:psen1-t116i 20180510 PRO:DAN PR:000037686 presenilin-1 sequence variant A275V (human) hPSEN1/var:A275V|UniProtKB:P49768-1, Ala-275, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a275v EXP NCBITaxon:9606 Alzforum:psen1-a275v 20180510 PRO:DAN PR:000045455 presenilin-1 sequence variant A164V (human) hPSEN1/var:A164V|UniProtKB:P49768-1, Ala-164, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a164v EXP NCBITaxon:9606 Alzforum:psen1-a164v 20180510 PRO:DAN PR:000037566 presenilin-1 sequence variant F105V (human) hPSEN1/var:F105V|UniProtKB:P49768-1, Phe-105, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f105v EXP NCBITaxon:9606 Alzforum:psen1-f105v 20180510 PRO:DAN PR:000037718 presenilin-1 sequence variant L392P (human) hPSEN1/var:L392P|UniProtKB:P49768-1, Leu-392, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l392p EXP NCBITaxon:9606 Alzforum:psen1-l392p 20180510 PRO:DAN PR:000037727 presenilin-1 sequence variant L424R (human) hPSEN1/var:L424R|UniProtKB:P49768-1, Leu-424, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l424r EXP NCBITaxon:9606 Alzforum:psen1-l424r 20180510 PRO:DAN PR:000044552 presenilin-1 sequence variant F388L (human) hPSEN1/var:F388L|UniProtKB:P49768-1, Phe-388, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f388l EXP NCBITaxon:9606 Alzforum:psen1-f388l 20180510 PRO:DAN PR:000037711 presenilin-1 sequence variant L381V (human) hPSEN1/var:L381V|UniProtKB:P49768-1, Leu-381, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l381v EXP NCBITaxon:9606 Alzforum:psen1-l381v 20180510 PRO:DAN PR:000037694 presenilin-1 sequence variant L282F (human) hPSEN1/var:L282F|UniProtKB:P49768-1, Leu-282, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l282f EXP NCBITaxon:9606 Alzforum:psen1-l282f 20180510 PRO:DAN PR:000037601 presenilin-1 sequence variant L153V (human) hPSEN1/var:L153V|UniProtKB:P49768-1, Leu-153, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l153v EXP NCBITaxon:9606 Alzforum:psen1-l153v 20180510 PRO:DAN PR:000037625 presenilin-1 sequence variant F177L (human) hPSEN1/var:F177L|UniProtKB:P49768-1, Phe-177, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f177l EXP NCBITaxon:9606 Alzforum:psen1-f177l 20180510 PRO:DAN PR:000045463 presenilin-1 sequence variant S230R (human) hPSEN1/var:S230R|UniProtKB:P49768-1, Ser-230, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s230r EXP NCBITaxon:9606 Alzforum:psen1-s230r 20180510 PRO:DAN PR:000037596 presenilin-1 sequence variant M146L (human) hPSEN1/var:M146L|UniProtKB:P49768-1, Met-146, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146l EXP NCBITaxon:9606 Alzforum:psen1-m146l 20180510 PRO:DAN PR:000037649 presenilin-1 sequence variant L226R (human) hPSEN1/var:L226R|UniProtKB:P49768-1, Leu-226, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l226r EXP NCBITaxon:9606 Alzforum:psen1-l226r 20180510 PRO:DAN PR:000037708 presenilin-1 sequence variant R377M (human) hPSEN1/var:R377M|UniProtKB:P49768-1, Arg-377, CHEBI:16044 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r377m EXP NCBITaxon:9606 Alzforum:psen1-r377m 20180510 PRO:DAN PR:000037737 presenilin-1 sequence variant P436Q (human) hPSEN1/var:P436Q|UniProtKB:P49768-1, Pro-436, CHEBI:30011 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p436q EXP NCBITaxon:9606 Alzforum:psen1-p436q 20180510 PRO:DAN PR:000037698 presenilin-1 sequence variant A285V (human) hPSEN1/var:A285V|UniProtKB:P49768-1, Ala-285, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a285v EXP NCBITaxon:9606 Alzforum:psen1-a285v 20180510 PRO:DAN PR:000037620 presenilin-1 sequence variant L173F (human) hPSEN1/var:L173F|UniProtKB:P49768-1, Leu-173, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l173f-gtDUPE EXP NCBITaxon:9606 Alzforum:psen1-l173f-gtDUPE 20180510 PRO:DAN PR:000037676 presenilin-1 sequence variant P264L (human) hPSEN1/var:P264L|UniProtKB:P49768-1, Pro-264, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p264l EXP NCBITaxon:9606 Alzforum:psen1-p264l 20180510 PRO:DAN PR:000037662 presenilin-1 sequence variant K239N (human) hPSEN1/var:K239N|UniProtKB:P49768-1, Lys-239, CHEBI:50347 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-k239n EXP NCBITaxon:9606 Alzforum:psen1-k239n 20180510 PRO:DAN PR:000037619 presenilin-1 sequence variant L173W (human) hPSEN1/var:L173W|UniProtKB:P49768-1, Leu-173, CHEBI:29954 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l173w EXP NCBITaxon:9606 Alzforum:psen1-l173w 20180510 PRO:DAN PR:000037603 presenilin-1 sequence variant Y154C (human) hPSEN1/var:Y154C|UniProtKB:P49768-1, Tyr-154, CHEBI:29950 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-y154c EXP NCBITaxon:9606 Alzforum:psen1-y154c 20180510 PRO:DAN PR:000045474 presenilin-1 sequence variant A396T (human) hPSEN1/var:A396T|UniProtKB:P49768-1, Ala-396, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a396t EXP NCBITaxon:9606 Alzforum:psen1-a396t 20180510 PRO:DAN PR:000037700 presenilin-1 sequence variant L286P (human) hPSEN1/var:L286P|UniProtKB:P49768-1, Leu-286, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l286p EXP NCBITaxon:9606 Alzforum:psen1-l286p 20180510 PRO:DAN PR:000037709 presenilin-1 sequence variant G378E (human) hPSEN1/var:G378E|UniProtKB:P49768-1, Gly-378, CHEBI:29972 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g378e EXP NCBITaxon:9606 Alzforum:psen1-g378e 20180510 PRO:DAN PR:000037597 presenilin-1 sequence variant M146I (human) hPSEN1/var:M146I|UniProtKB:P49768-1, Met-146, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m146i-ga EXP NCBITaxon:9606 Alzforum:psen1-m146i-ga 20180510 PRO:DAN PR:000037600 presenilin-1 sequence variant T147I (human) hPSEN1/var:T147I|UniProtKB:P49768-1, Thr-147, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-t147i EXP NCBITaxon:9606 Alzforum:psen1-t147i 20180510 PRO:DAN PR:000037641 presenilin-1 sequence variant H214D (human) hPSEN1/var:H214D|UniProtKB:P49768-1, His-214, CHEBI:29958 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-h214d EXP NCBITaxon:9606 Alzforum:psen1-h214d 20180510 PRO:DAN PR:000037661 presenilin-1 sequence variant I238M (human) hPSEN1/var:I238M|UniProtKB:P49768-1, Ile-238, CHEBI:16044 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i238m EXP NCBITaxon:9606 Alzforum:psen1-i238m 20180510 PRO:DAN PR:000037590 presenilin-1 sequence variant M139I (human) hPSEN1/var:M139I|UniProtKB:P49768-1, Met-139, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m139i-gcDUPE EXP NCBITaxon:9606 Alzforum:psen1-m139i-gcDUPE 20180510 PRO:DAN PR:000045475 presenilin-1 sequence variant I437V (human) hPSEN1/var:I437V|UniProtKB:P49768-1, Ile-437, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i437v EXP NCBITaxon:9606 Alzforum:psen1-i437v 20180510 PRO:DAN PR:000045451 presenilin-1 sequence variant T116R (human) hPSEN1/var:T116R|UniProtKB:P49768-1, Thr-116, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-t116r EXP NCBITaxon:9606 Alzforum:psen1-t116r 20180510 PRO:DAN PR:000037710 presenilin-1 sequence variant G378V (human) hPSEN1/var:G378V|UniProtKB:P49768-1, Gly-378, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g378v EXP NCBITaxon:9606 Alzforum:psen1-g378v 20180510 PRO:DAN PR:000037586 presenilin-1 sequence variant A136G (human) hPSEN1/var:A136G|UniProtKB:P49768-1, Ala-136, CHEBI:29947 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a136g EXP NCBITaxon:9606 Alzforum:psen1-a136g 20180510 PRO:DAN PR:000037582 presenilin-1 sequence variant E120D (human) hPSEN1/var:E120D|UniProtKB:P49768-1, Glu-120, CHEBI:29958 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e120d-acDUPE EXP NCBITaxon:9606 Alzforum:psen1-e120d-acDUPE 20180510 PRO:DAN PR:000037639 presenilin-1 sequence variant I213F (human) hPSEN1/var:I213F|UniProtKB:P49768-1, Ile-213, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i213f EXP NCBITaxon:9606 Alzforum:psen1-i213f 20180510 PRO:DAN PR:000037582 presenilin-1 sequence variant E120D (human) hPSEN1/var:E120D|UniProtKB:P49768-1, Glu-120, CHEBI:29958 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e120d EXP NCBITaxon:9606 Alzforum:psen1-e120d 20180510 PRO:DAN PR:000037611 presenilin-1 sequence variant L166H (human) hPSEN1/var:L166H|UniProtKB:P49768-1, Leu-166, CHEBI:29979 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l166h EXP NCBITaxon:9606 Alzforum:psen1-l166h 20180510 PRO:DAN PR:000037626 presenilin-1 sequence variant S178P (human) hPSEN1/var:S178P|UniProtKB:P49768-1, Ser-178, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s178p EXP NCBITaxon:9606 Alzforum:psen1-s178p 20180510 PRO:DAN PR:000037633 presenilin-1 sequence variant G206D (human) hPSEN1/var:G206D|UniProtKB:P49768-1, Gly-206, CHEBI:29958 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g206d EXP NCBITaxon:9606 Alzforum:psen1-g206d 20180510 PRO:DAN PR:000037714 presenilin-1 sequence variant F386S (human) hPSEN1/var:F386S|UniProtKB:P49768-1, Phe-386, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-f386s EXP NCBITaxon:9606 Alzforum:psen1-f386s 20180510 PRO:DAN PR:000037738 presenilin-1 sequence variant I439S (human) hPSEN1/var:I439S|UniProtKB:P49768-1, Ile-439, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i439s EXP NCBITaxon:9606 Alzforum:psen1-i439s 20180510 PRO:DAN PR:000037612 presenilin-1 sequence variant L166del (human) hPSEN1/var:L166del|UniProtKB:P49768-1, 1-165, 167-467 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l166del EXP NCBITaxon:9606 Alzforum:psen1-l166del 20180510 PRO:DAN PR:000037729 presenilin-1 sequence variant L424V (human) hPSEN1/var:L424V|UniProtKB:P49768-1, Leu-424, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l424v EXP NCBITaxon:9606 Alzforum:psen1-l424v 20180510 PRO:DAN PR:000037561 presenilin-1 sequence variant C92S (human) hPSEN1/var:C92S|UniProtKB:P49768-1, Cys-92, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-c92s EXP NCBITaxon:9606 Alzforum:psen1-c92s 20180510 PRO:DAN PR:000037647 presenilin-1 sequence variant Q222H (human) hPSEN1/var:Q222H|UniProtKB:P49768-1, Gln-222, CHEBI:29979 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-q222h EXP NCBITaxon:9606 Alzforum:psen1-q222h 20180510 PRO:DAN PR:000045464 presenilin-1 sequence variant S230I (human) hPSEN1/var:S230I|UniProtKB:P49768-1, Ser-230, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s230i EXP NCBITaxon:9606 Alzforum:psen1-s230i 20180510 PRO:DAN PR:000037666 presenilin-1 sequence variant L248P (human) hPSEN1/var:L248P|UniProtKB:P49768-1, Leu-248, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l248p EXP NCBITaxon:9606 Alzforum:psen1-l248p 20180510 PRO:DAN PR:000037593 presenilin-1 sequence variant I143F (human) hPSEN1/var:I143F|UniProtKB:P49768-1, Ile-143, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i143f EXP NCBITaxon:9606 Alzforum:psen1-i143f 20180510 PRO:DAN PR:000037617 presenilin-1 sequence variant S170F (human) hPSEN1/var:S170F|UniProtKB:P49768-1, Ser-170, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s170f EXP NCBITaxon:9606 Alzforum:psen1-s170f 20180510 PRO:DAN PR:000037564 presenilin-1 sequence variant V97L (human) hPSEN1/var:V97L|UniProtKB:P49768-1, Val-97, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v97l EXP NCBITaxon:9606 Alzforum:psen1-v97l 20180510 PRO:DAN PR:000037713 presenilin-1 sequence variant G384A (human) hPSEN1/var:G384A|UniProtKB:P49768-1, Gly-384, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g384a EXP NCBITaxon:9606 Alzforum:psen1-g384a 20180510 PRO:DAN PR:000044558 presenilin-1 sequence variant R220P (human) hPSEN1/var:R220P|UniProtKB:P49768-1, Arg-220, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r220p EXP NCBITaxon:9606 Alzforum:psen1-r220p 20180510 PRO:DAN PR:000037675 presenilin-1 sequence variant C263F (human) hPSEN1/var:C263F|UniProtKB:P49768-1, Cys-263, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-c263f EXP NCBITaxon:9606 Alzforum:psen1-c263f 20180510 PRO:DAN PR:000037558 presenilin-1 sequence variant V82L (human) hPSEN1/var:V82L|UniProtKB:P49768-1, Val-82, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v82l EXP NCBITaxon:9606 Alzforum:psen1-v82l 20180510 PRO:DAN PR:000037616 presenilin-1 sequence variant S169P (human) hPSEN1/var:S169P|UniProtKB:P49768-1, Ser-169, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s169p EXP NCBITaxon:9606 Alzforum:psen1-s169p 20180510 PRO:DAN PR:000037683 presenilin-1 sequence variant V272A (human) hPSEN1/var:V272A|UniProtKB:P49768-1, Val-272, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v272a EXP NCBITaxon:9606 Alzforum:psen1-v272a 20180510 PRO:DAN PR:000037680 presenilin-1 sequence variant R269H (human) hPSEN1/var:R269H|UniProtKB:P49768-1, Arg-269, CHEBI:29979 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r269h EXP NCBITaxon:9606 Alzforum:psen1-r269h 20180510 PRO:DAN PR:000037673 presenilin-1 sequence variant L262F (human) hPSEN1/var:L262F|UniProtKB:P49768-1, Leu-262, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l262f EXP NCBITaxon:9606 Alzforum:psen1-l262f 20180510 PRO:DAN PR:000037688 presenilin-1 sequence variant R278K (human) hPSEN1/var:R278K|UniProtKB:P49768-1, Arg-278, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r278k EXP NCBITaxon:9606 Alzforum:psen1-r278k 20180510 PRO:DAN PR:000037595 presenilin-1 sequence variant I143M (human) hPSEN1/var:I143M|UniProtKB:P49768-1, Ile-143, CHEBI:16044 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i143m EXP NCBITaxon:9606 Alzforum:psen1-i143m 20180510 PRO:DAN PR:000037730 presenilin-1 sequence variant A426P (human) hPSEN1/var:A426P|UniProtKB:P49768-1, Ala-426, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a426p EXP NCBITaxon:9606 Alzforum:psen1-a426p 20180510 PRO:DAN PR:000037734 presenilin-1 sequence variant A434T (human) hPSEN1/var:A434T|UniProtKB:P49768-1, Ala-434, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a434t EXP NCBITaxon:9606 Alzforum:psen1-a434t 20180510 PRO:DAN PR:000037636 presenilin-1 sequence variant G209V (human) hPSEN1/var:G209V|UniProtKB:P49768-1, Gly-209, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g209v EXP NCBITaxon:9606 Alzforum:psen1-g209v 20180510 PRO:DAN PR:000037560 presenilin-1 sequence variant V89L (human) hPSEN1/var:V89L|UniProtKB:P49768-1, Val-89, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v89l EXP NCBITaxon:9606 Alzforum:psen1-v89l 20180510 PRO:DAN PR:000045473 presenilin-1 sequence variant S390N (human) hPSEN1/var:S390N|UniProtKB:P49768-1, Ser-390, CHEBI:50347 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s390n EXP NCBITaxon:9606 Alzforum:psen1-s390n 20180510 PRO:DAN PR:000037632 presenilin-1 sequence variant G206V (human) hPSEN1/var:G206V|UniProtKB:P49768-1, Gly-206, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g206v EXP NCBITaxon:9606 Alzforum:psen1-g206v 20180510 PRO:DAN PR:000037638 presenilin-1 sequence variant I213T (human) hPSEN1/var:I213T|UniProtKB:P49768-1, Ile-213, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i213t EXP NCBITaxon:9606 Alzforum:psen1-i213t 20180510 PRO:DAN PR:000037579 presenilin-1 sequence variant P117L (human) hPSEN1/var:P117L|UniProtKB:P49768-1, Pro-117, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p117l EXP NCBITaxon:9606 Alzforum:psen1-p117l 20180510 PRO:DAN PR:000037581 presenilin-1 sequence variant E120G (human) hPSEN1/var:E120G|UniProtKB:P49768-1, Glu-120, CHEBI:29947 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e120g EXP NCBITaxon:9606 Alzforum:psen1-e120g 20180510 PRO:DAN PR:000045467 presenilin-1 sequence variant A246P (human) hPSEN1/var:A246P|UniProtKB:P49768-1, Ala-246, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a246p EXP NCBITaxon:9606 Alzforum:psen1-a246p 20180510 PRO:DAN PR:000037588 presenilin-1 sequence variant M139V (human) hPSEN1/var:M139V|UniProtKB:P49768-1, Met-139, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m139v EXP NCBITaxon:9606 Alzforum:psen1-m139v 20180510 PRO:DAN PR:000037575 presenilin-1 sequence variant T116N (human) hPSEN1/var:T116N|UniProtKB:P49768-1, Thr-116, CHEBI:50347 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-t116n EXP NCBITaxon:9606 Alzforum:psen1-t116n 20180510 PRO:DAN PR:000037620 presenilin-1 sequence variant L173F (human) hPSEN1/var:L173F|UniProtKB:P49768-1, Leu-173, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l173f-gc EXP NCBITaxon:9606 Alzforum:psen1-l173f-gc 20180510 PRO:DAN PR:000037663 presenilin-1 sequence variant T245P (human) hPSEN1/var:T245P|UniProtKB:P49768-1, Thr-245, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-t245p EXP NCBITaxon:9606 Alzforum:psen1-t245p 20180510 PRO:DAN PR:000037731 presenilin-1 sequence variant A431V (human) hPSEN1/var:A431V|UniProtKB:P49768-1, Ala-431, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a431v EXP NCBITaxon:9606 Alzforum:psen1-a431v 20180510 PRO:DAN PR:000037583 presenilin-1 sequence variant E123K (human) hPSEN1/var:E123K|UniProtKB:P49768-1, Glu-123, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e123k EXP NCBITaxon:9606 Alzforum:psen1-e123k 20180510 PRO:DAN PR:000045470 presenilin-1 sequence variant E280K (human) hPSEN1/var:E280K|UniProtKB:P49768-1, Glu-280, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e280k EXP NCBITaxon:9606 Alzforum:psen1-e280k 20180510 PRO:DAN PR:000037585 presenilin-1 sequence variant N135S (human) hPSEN1/var:N135S|UniProtKB:P49768-1, Asn-135, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-n135s EXP NCBITaxon:9606 Alzforum:psen1-n135s 20180510 PRO:DAN PR:000037664 presenilin-1 sequence variant A246E (human) hPSEN1/var:A246E|UniProtKB:P49768-1, Ala-246, CHEBI:29972 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a246e EXP NCBITaxon:9606 Alzforum:psen1-a246e 20180510 PRO:DAN PR:000037724 presenilin-1 sequence variant L418F (human) hPSEN1/var:L418F|UniProtKB:P49768-1, Leu-418, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l418f EXP NCBITaxon:9606 Alzforum:psen1-l418f 20180510 PRO:DAN PR:000037571 presenilin-1 sequence variant Y115H (human) hPSEN1/var:Y115H|UniProtKB:P49768-1, Tyr-115, CHEBI:29979 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-y115h EXP NCBITaxon:9606 Alzforum:psen1-y115h 20180510 PRO:DAN PR:000044559 presenilin-1 sequence variant S169del (human) hPSEN1/var:S169del|UniProtKB:P49768-1, 1-168, 171-467 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s169del-%CE%B4s169 EXP NCBITaxon:9606 Alzforum:psen1-s169del-%CE%B4s169 20180510 PRO:DAN PR:000037587 presenilin-1 sequence variant M139T (human) hPSEN1/var:M139T|UniProtKB:P49768-1, Met-139, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m139t EXP NCBITaxon:9606 Alzforum:psen1-m139t 20180510 PRO:DAN PR:000037712 presenilin-1 sequence variant L381F (human) hPSEN1/var:L381F|UniProtKB:P49768-1, Leu-381, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l381f EXP NCBITaxon:9606 Alzforum:psen1-l381f 20180510 PRO:DAN PR:000037677 presenilin-1 sequence variant G266S (human) hPSEN1/var:G266S|UniProtKB:P49768-1, Gly-266, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g266s EXP NCBITaxon:9606 Alzforum:psen1-g266s 20180510 PRO:DAN PR:000037608 presenilin-1 sequence variant W165C (human) hPSEN1/var:W165C|UniProtKB:P49768-1, Trp-165, CHEBI:29950 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-w165c EXP NCBITaxon:9606 Alzforum:psen1-w165c 20180510 PRO:DAN PR:000037610 presenilin-1 sequence variant L166P (human) hPSEN1/var:L166P|UniProtKB:P49768-1, Leu-166, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l166p EXP NCBITaxon:9606 Alzforum:psen1-l166p 20180510 PRO:DAN PR:000045472 presenilin-1 sequence variant R377W (human) hPSEN1/var:R377W|UniProtKB:P49768-1, Arg-377, CHEBI:29954 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r377w EXP NCBITaxon:9606 Alzforum:psen1-r377w 20180510 PRO:DAN PR:000044557 presenilin-1 sequence variant P267A (human) hPSEN1/var:P267A|UniProtKB:P49768-1, Pro-267, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p267a EXP NCBITaxon:9606 Alzforum:psen1-p267a 20180510 PRO:DAN PR:000037578 presenilin-1 sequence variant P117A (human) hPSEN1/var:P117A|UniProtKB:P49768-1, Pro-117, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p117a EXP NCBITaxon:9606 Alzforum:psen1-p117a 20180510 PRO:DAN PR:000045466 presenilin-1 sequence variant L235R (human) hPSEN1/var:L235R|UniProtKB:P49768-1, Leu-235, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l235r EXP NCBITaxon:9606 Alzforum:psen1-l235r 20180510 PRO:DAN PR:000037657 presenilin-1 sequence variant L235P (human) hPSEN1/var:L235P|UniProtKB:P49768-1, Leu-235, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l235p EXP NCBITaxon:9606 Alzforum:psen1-l235p 20180510 PRO:DAN PR:000037693 presenilin-1 sequence variant L282V (human) hPSEN1/var:L282V|UniProtKB:P49768-1, Leu-282, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l282v EXP NCBITaxon:9606 Alzforum:psen1-l282v 20180510 PRO:DAN PR:000037563 presenilin-1 sequence variant V96F (human) hPSEN1/var:V96F|UniProtKB:P49768-1, Val-96, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v96f EXP NCBITaxon:9606 Alzforum:psen1-v96f 20180510 PRO:DAN PR:000037635 presenilin-1 sequence variant G209R (human) hPSEN1/var:G209R|UniProtKB:P49768-1, Gly-209, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-g209r EXP NCBITaxon:9606 Alzforum:psen1-g209r 20180510 PRO:DAN PR:000037720 presenilin-1 sequence variant N405S (human) hPSEN1/var:N405S|UniProtKB:P49768-1, Asn-405, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-n405s EXP NCBITaxon:9606 Alzforum:psen1-n405s 20180510 PRO:DAN PR:000037590 presenilin-1 sequence variant M139I (human) hPSEN1/var:M139I|UniProtKB:P49768-1, Met-139, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m139i-ga EXP NCBITaxon:9606 Alzforum:psen1-m139i-ga 20180510 PRO:DAN PR:000045448 presenilin-1 sequence variant I83T (human) hPSEN1/var:I83T|UniProtKB:P49768-1, Ile-83, CHEBI:30013 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i83t EXP NCBITaxon:9606 Alzforum:psen1-i83t 20180510 PRO:DAN PR:000037697 presenilin-1 sequence variant P284S (human) hPSEN1/var:P284S|UniProtKB:P49768-1, Pro-284, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p284s EXP NCBITaxon:9606 Alzforum:psen1-p284s 20180510 PRO:DAN PR:000037706 presenilin-1 sequence variant S365A (human) hPSEN1/var:S365A|UniProtKB:P49768-1, Ser-365, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s365a EXP NCBITaxon:9606 Alzforum:psen1-s365a 20180510 PRO:DAN PR:000037628 presenilin-1 sequence variant E184D (human) hPSEN1/var:E184D|UniProtKB:P49768-1, Glu-184, CHEBI:29958 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e184d EXP NCBITaxon:9606 Alzforum:psen1-e184d 20180510 PRO:DAN PR:000037684 presenilin-1 sequence variant E273A (human) hPSEN1/var:E273A|UniProtKB:P49768-1, Glu-273, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e273a EXP NCBITaxon:9606 Alzforum:psen1-e273a 20180510 PRO:DAN PR:000037559 presenilin-1 sequence variant L85P (human) hPSEN1/var:L85P|UniProtKB:P49768-1, Leu-85, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l85p EXP NCBITaxon:9606 Alzforum:psen1-l85p 20180510 PRO:DAN PR:000037653 presenilin-1 sequence variant M233L (human) hPSEN1/var:M233L|UniProtKB:P49768-1, Met-233, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-m233l-acDUPE EXP NCBITaxon:9606 Alzforum:psen1-m233l-acDUPE 20180510 PRO:DAN PR:000044554 presenilin-1 sequence variant H214N (human) hPSEN1/var:H214N|UniProtKB:P49768-1, His-214, CHEBI:50347 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-h214n EXP NCBITaxon:9606 Alzforum:psen1-h214n 20180510 PRO:DAN PR:000037687 presenilin-1 sequence variant R278I (human) hPSEN1/var:R278I|UniProtKB:P49768-1, Arg-278, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r278i EXP NCBITaxon:9606 Alzforum:psen1-r278i 20180510 PRO:DAN PR:000037722 presenilin-1 sequence variant C410Y (human) hPSEN1/var:C410Y|UniProtKB:P49768-1, Cys-410, CHEBI:46858 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-c410y EXP NCBITaxon:9606 Alzforum:psen1-c410y 20180510 PRO:DAN PR:000037700 presenilin-1 sequence variant L286P (human) hPSEN1/var:L286P|UniProtKB:P49768-1, Leu-286, CHEBI:50342 associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy Alzforum:psen1-l286p EXP NCBITaxon:9606 Alzforum:psen1-l286p 20180510 PRO:DAN PR:000037677 presenilin-1 sequence variant G266S (human) hPSEN1/var:G266S|UniProtKB:P49768-1, Gly-266, CHEBI:29999 associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy Alzforum:psen1-g266s EXP NCBITaxon:9606 Alzforum:psen1-g266s 20180510 PRO:DAN PR:000037709 presenilin-1 sequence variant G378E (human) hPSEN1/var:G378E|UniProtKB:P49768-1, Gly-378, CHEBI:29972 associated_with_disease_progression DOID:9246 cerebral amyloid angiopathy Alzforum:psen1-g378e EXP NCBITaxon:9606 Alzforum:psen1-g378e 20180510 PRO:DAN