Protein Ontology Report - hPSEN1 PR:P49768 - http://purl.obolibrary.org/obo/PR_P49768

This page represents a class of proteins encompassing all the protein products of the PSEN1 gene in Homo sapiens.

Ontology Information
PRO ID	PR:P49768 Show OBO stanza / PAF / GPI
PRO name	presenilin-1 (human)
Synonyms	PRO-short-label: EXACT: hPSEN1 Gene-based: RELATED: AD3 | PS1 | PSEN1 | PSNL1 Other: EXACT: PS-1 (human) | protein S182 (human)
Definition	A presenilin-1 that is encoded in the genome of human. [PRO:DNx, UniProtKB:P49768]
Comment	Requested by=Alzforum.
PRO Category	organism-gene
Parent	PR:000013344 presenilin-1
Gene Template	HGNC:9508 PSEN1
Taxon	NCBITaxon:9606 Homo sapiens
Terms by PRO Category	Retrieve All terms OBO Stanza / PAF Organism-Specific Category Number of Terms organism-gene 1 organism-sequence 234 organism-modification 1
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Related Cross References
DB identifiers	Reactome:R-HSA-201606, Reactome:R-HSA-6799235, UniProtKB:P49768

Interactive Sequence View Select/align proteoforms across species

Protein Forms Display Category: All All organism-gene organism-sequence organism-modification
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation PRO Centric View GO Centric View

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

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