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Protein Ontology report - presenilin-1 (human)
PR:P49768 - http://purl.obolibrary.org/obo/PR_P49768
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza
  PRO ID
PR:P49768   
  PRO namepresenilin-1 (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN1
Gene-based: RELATED:AD3 | PS1 | PSEN1 | PSNL1
Other: EXACT:protein S182 (human) | PS-1 (human)
  Definition"A presenilin-1 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P49768] 
  CommentRequested by=Alzforum. 
  PRO Categoryorganism-gene 
  ParentPR:000013344 presenilin-1
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:9508 PSEN1 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 234                                        
         Modification0                                                  Organism-Modification 3                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:P49768
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

Comp. In Complex?
organism-gene


PR:P49768 presenilin-1 (human)
hPSEN1

organism-sequence


PR:000036285 presenilin-1 sequence variant (human)
hPSEN1/var+

organism-sequence


PR:000037555 presenilin-1 sequence variant R35Q (human)
hPSEN1/var:R35Q

organism-sequence


PR:000037556 presenilin-1 sequence variant D40del (human)
hPSEN1/var:D40del

organism-sequence


PR:000037557 presenilin-1 sequence variant A79V (human)
hPSEN1/var:A79V
Yes
organism-sequence


PR:000037558 presenilin-1 sequence variant V82L (human)
hPSEN1/var:V82L
Yes
organism-sequence


PR:000037559 presenilin-1 sequence variant L85P (human)
hPSEN1/var:L85P
Yes
organism-sequence


PR:000037560 presenilin-1 sequence variant V89L (human)
hPSEN1/var:V89L
Yes
organism-sequence


PR:000037561 presenilin-1 sequence variant C92S (human)
hPSEN1/var:C92S
Yes
organism-sequence


PR:000037562 presenilin-1 sequence variant V94M (human)
hPSEN1/var:V94M
Yes
organism-sequence


PR:000037563 presenilin-1 sequence variant V96F (human)
hPSEN1/var:V96F
Yes
organism-sequence


PR:000037564 presenilin-1 sequence variant V97L (human)
hPSEN1/var:V97L
Yes
organism-sequence


PR:000037565 presenilin-1 sequence variant F105I (human)
hPSEN1/var:F105I
Yes
organism-sequence


PR:000037566 presenilin-1 sequence variant F105V (human)
hPSEN1/var:F105V
Yes
organism-sequence


PR:000037567 presenilin-1 sequence variant F105C (human)
hPSEN1/var:F105C
Yes
organism-sequence


PR:000037568 presenilin-1 sequence variant F105L (human)
hPSEN1/var:F105L
Yes
organism-sequence


PR:000037569 presenilin-1 sequence variant L113Q (human)
hPSEN1/var:L113Q
Yes
organism-sequence


PR:000037570 presenilin-1 sequence variant L113P (human)
hPSEN1/var:L113P

organism-sequence


PR:000037571 presenilin-1 sequence variant Y115H (human)
hPSEN1/var:Y115H
Yes
organism-sequence


PR:000037572 presenilin-1 sequence variant Y115C (human)
hPSEN1/var:Y115C
Yes
organism-sequence


PR:000037573 presenilin-1 sequence variant Y115D (human)
hPSEN1/var:Y115D
Yes
organism-sequence


PR:000037574 presenilin-1 sequence variant T116I (human)
hPSEN1/var:T116I
Yes
organism-sequence


PR:000037575 presenilin-1 sequence variant T116N (human)
hPSEN1/var:T116N
Yes
organism-sequence


PR:000037576 presenilin-1 sequence variant P117S (human)
hPSEN1/var:P117S
Yes
organism-sequence


PR:000037577 presenilin-1 sequence variant P117R (human)
hPSEN1/var:P117R
Yes
organism-sequence


PR:000037578 presenilin-1 sequence variant P117A (human)
hPSEN1/var:P117A
Yes
organism-sequence


PR:000037579 presenilin-1 sequence variant P117L (human)
hPSEN1/var:P117L
Yes
organism-sequence


PR:000037580 presenilin-1 sequence variant E120K (human)
hPSEN1/var:E120K
Yes
organism-sequence


PR:000037581 presenilin-1 sequence variant E120G (human)
hPSEN1/var:E120G
Yes
organism-sequence


PR:000037582 presenilin-1 sequence variant E120D (human)
hPSEN1/var:E120D
Yes
organism-sequence


PR:000037583 presenilin-1 sequence variant E123K (human)
hPSEN1/var:E123K
Yes
organism-sequence


PR:000037584 presenilin-1 sequence variant N135D (human)
hPSEN1/var:N135D
Yes
organism-sequence


PR:000037585 presenilin-1 sequence variant N135S (human)
hPSEN1/var:N135S
Yes
organism-sequence


PR:000037586 presenilin-1 sequence variant A136G (human)
hPSEN1/var:A136G
Yes
organism-sequence


PR:000037587 presenilin-1 sequence variant M139T (human)
hPSEN1/var:M139T
Yes
organism-sequence


PR:000037588 presenilin-1 sequence variant M139V (human)
hPSEN1/var:M139V
Yes
organism-sequence


PR:000037589 presenilin-1 sequence variant M139K (human)
hPSEN1/var:M139K
Yes
organism-sequence


PR:000037590 presenilin-1 sequence variant M139I (human)
hPSEN1/var:M139I
Yes
organism-sequence


PR:000037591 presenilin-1 sequence variant I143N (human)
hPSEN1/var:I143N
Yes
organism-sequence


PR:000037592 presenilin-1 sequence variant I143V (human)
hPSEN1/var:I143V
Yes
organism-sequence


PR:000037593 presenilin-1 sequence variant I143F (human)
hPSEN1/var:I143F
Yes
organism-sequence


PR:000037594 presenilin-1 sequence variant I143T (human)
hPSEN1/var:I143T
Yes
organism-sequence


PR:000037595 presenilin-1 sequence variant I143M (human)
hPSEN1/var:I143M
Yes
organism-sequence


PR:000037596 presenilin-1 sequence variant M146L (human)
hPSEN1/var:M146L
Yes
organism-sequence


PR:000037597 presenilin-1 sequence variant M146I (human)
hPSEN1/var:M146I
Yes
organism-sequence


PR:000037598 presenilin-1 sequence variant M146V (human)
hPSEN1/var:M146V
Yes
organism-sequence


PR:000037599 presenilin-1 sequence variant T147P (human)
hPSEN1/var:T147P
Yes
organism-sequence


PR:000037600 presenilin-1 sequence variant T147I (human)
hPSEN1/var:T147I
Yes
organism-sequence


PR:000037601 presenilin-1 sequence variant L153V (human)
hPSEN1/var:L153V
Yes
organism-sequence


PR:000037602 presenilin-1 sequence variant Y154N (human)
hPSEN1/var:Y154N
Yes
organism-sequence


PR:000037603 presenilin-1 sequence variant Y154C (human)
hPSEN1/var:Y154C
Yes
organism-sequence


PR:000037604 presenilin-1 sequence variant H163Y (human)
hPSEN1/var:H163Y
Yes
organism-sequence


PR:000037605 presenilin-1 sequence variant H163P (human)
hPSEN1/var:H163P

organism-sequence


PR:000037606 presenilin-1 sequence variant H163R (human)
hPSEN1/var:H163R
Yes
organism-sequence


PR:000037607 presenilin-1 sequence variant W165G (human)
hPSEN1/var:W165G
Yes
organism-sequence


PR:000037608 presenilin-1 sequence variant W165C (human)
hPSEN1/var:W165C
Yes
organism-sequence


PR:000037609 presenilin-1 sequence variant L166R (human)
hPSEN1/var:L166R
Yes
organism-sequence


PR:000037610 presenilin-1 sequence variant L166P (human)
hPSEN1/var:L166P
Yes
organism-sequence


PR:000037611 presenilin-1 sequence variant L166H (human)
hPSEN1/var:L166H
Yes
organism-sequence


PR:000037612 presenilin-1 sequence variant L166del (human)
hPSEN1/var:L166del
Yes
organism-sequence


PR:000037613 presenilin-1 sequence variant I167del (human)
hPSEN1/var:I167del
Yes
organism-sequence


PR:000037614 presenilin-1 sequence variant I168del (human)
hPSEN1/var:I168del
Yes
organism-sequence


PR:000037615 presenilin-1 sequence variant S169L (human)
hPSEN1/var:S169L
Yes
organism-sequence


PR:000037616 presenilin-1 sequence variant S169P (human)
hPSEN1/var:S169P
Yes
organism-sequence


PR:000037617 presenilin-1 sequence variant S170F (human)
hPSEN1/var:S170F
Yes
organism-sequence


PR:000037618 presenilin-1 sequence variant L171P (human)
hPSEN1/var:L171P
Yes
organism-sequence


PR:000037619 presenilin-1 sequence variant L173W (human)
hPSEN1/var:L173W
Yes
organism-sequence


PR:000037620 presenilin-1 sequence variant L173F (human)
hPSEN1/var:L173F
Yes
organism-sequence


PR:000037621 presenilin-1 sequence variant L174R (human)
hPSEN1/var:L174R
Yes
organism-sequence


PR:000037622 presenilin-1 sequence variant L174M (human)
hPSEN1/var:L174M
Yes
organism-sequence


PR:000037623 presenilin-1 sequence variant F175S (human)
hPSEN1/var:F175S

organism-sequence


PR:000037624 presenilin-1 sequence variant F177S (human)
hPSEN1/var:F177S
Yes
organism-sequence


PR:000037625 presenilin-1 sequence variant F177L (human)
hPSEN1/var:F177L
Yes
organism-sequence


PR:000037626 presenilin-1 sequence variant S178P (human)
hPSEN1/var:S178P
Yes
organism-sequence


PR:000037627 presenilin-1 sequence variant G183V (human)
hPSEN1/var:G183V
Yes
organism-sequence


PR:000037628 presenilin-1 sequence variant E184D (human)
hPSEN1/var:E184D
Yes
organism-sequence


PR:000037629 presenilin-1 sequence variant V191A (human)
hPSEN1/var:V191A

organism-sequence


PR:000037630 presenilin-1 sequence variant G206A (human)
hPSEN1/var:G206A
Yes
organism-sequence


PR:000037631 presenilin-1 sequence variant G206S (human)
hPSEN1/var:G206S
Yes
organism-sequence


PR:000037632 presenilin-1 sequence variant G206V (human)
hPSEN1/var:G206V
Yes
organism-sequence


PR:000037633 presenilin-1 sequence variant G206D (human)
hPSEN1/var:G206D
Yes
organism-sequence


PR:000037634 presenilin-1 sequence variant G209E (human)
hPSEN1/var:G209E
Yes
organism-sequence


PR:000037635 presenilin-1 sequence variant G209R (human)
hPSEN1/var:G209R
Yes
organism-sequence


PR:000037636 presenilin-1 sequence variant G209V (human)
hPSEN1/var:G209V
Yes
organism-sequence


PR:000037637 presenilin-1 sequence variant S212Y (human)
hPSEN1/var:S212Y
Yes
organism-sequence


PR:000037638 presenilin-1 sequence variant I213T (human)
hPSEN1/var:I213T
Yes
organism-sequence


PR:000037639 presenilin-1 sequence variant I213F (human)
hPSEN1/var:I213F
Yes
organism-sequence


PR:000037640 presenilin-1 sequence variant H214Y (human)
hPSEN1/var:H214Y
Yes
organism-sequence


PR:000037641 presenilin-1 sequence variant H214D (human)
hPSEN1/var:H214D
Yes
organism-sequence


PR:000037642 presenilin-1 sequence variant G217D (human)
hPSEN1/var:G217D
Yes
organism-sequence


PR:000037643 presenilin-1 sequence variant G217R (human)
hPSEN1/var:G217R
Yes
organism-sequence


PR:000037644 presenilin-1 sequence variant L219F (human)
hPSEN1/var:L219F
Yes
organism-sequence


PR:000037645 presenilin-1 sequence variant L219P (human)
hPSEN1/var:L219P
Yes
organism-sequence


PR:000037646 presenilin-1 sequence variant Q222R (human)
hPSEN1/var:Q222R
Yes
organism-sequence


PR:000037647 presenilin-1 sequence variant Q222H (human)
hPSEN1/var:Q222H
Yes
organism-sequence


PR:000037648 presenilin-1 sequence variant Q223R (human)
hPSEN1/var:Q223R
Yes
organism-sequence


PR:000037649 presenilin-1 sequence variant L226R (human)
hPSEN1/var:L226R
Yes
organism-sequence


PR:000037650 presenilin-1 sequence variant I229F (human)
hPSEN1/var:I229F
Yes
organism-sequence


PR:000037651 presenilin-1 sequence variant A231V (human)
hPSEN1/var:A231V
Yes
organism-sequence


PR:000037652 presenilin-1 sequence variant A231T (human)
hPSEN1/var:A231T
Yes
organism-sequence


PR:000037653 presenilin-1 sequence variant M233L (human)
hPSEN1/var:M233L
Yes
organism-sequence


PR:000037654 presenilin-1 sequence variant M233T (human)
hPSEN1/var:M233T
Yes
organism-sequence


PR:000037655 presenilin-1 sequence variant M233I (human)
hPSEN1/var:M233I
Yes
organism-sequence


PR:000037656 presenilin-1 sequence variant M233V (human)
hPSEN1/var:M233V
Yes
organism-sequence


PR:000037657 presenilin-1 sequence variant L235P (human)
hPSEN1/var:L235P
Yes
organism-sequence


PR:000037658 presenilin-1 sequence variant L235V (human)
hPSEN1/var:L235V
Yes
organism-sequence


PR:000037659 presenilin-1 sequence variant F237L (human)
hPSEN1/var:F237L
Yes
organism-sequence


PR:000037660 presenilin-1 sequence variant F237I (human)
hPSEN1/var:F237I
Yes
organism-sequence


PR:000037661 presenilin-1 sequence variant I238M (human)
hPSEN1/var:I238M
Yes
organism-sequence


PR:000037662 presenilin-1 sequence variant K239N (human)
hPSEN1/var:K239N
Yes
organism-sequence


PR:000037663 presenilin-1 sequence variant T245P (human)
hPSEN1/var:T245P
Yes
organism-sequence


PR:000037664 presenilin-1 sequence variant A246E (human)
hPSEN1/var:A246E
Yes
organism-sequence


PR:000037665 presenilin-1 sequence variant L248R (human)
hPSEN1/var:L248R
Yes
organism-sequence


PR:000037666 presenilin-1 sequence variant L248P (human)
hPSEN1/var:L248P
Yes
organism-sequence


PR:000037667 presenilin-1 sequence variant L250S (human)
hPSEN1/var:L250S
Yes
organism-sequence


PR:000037668 presenilin-1 sequence variant L250V (human)
hPSEN1/var:L250V
Yes
organism-sequence


PR:000037669 presenilin-1 sequence variant Y256S (human)
hPSEN1/var:Y256S
Yes
organism-sequence


PR:000037670 presenilin-1 sequence variant A260V (human)
hPSEN1/var:A260V
Yes
organism-sequence


PR:000037671 presenilin-1 sequence variant V261F (human)
hPSEN1/var:V261F
Yes
organism-sequence


PR:000037672 presenilin-1 sequence variant V261L (human)
hPSEN1/var:V261L
Yes
organism-sequence


PR:000037673 presenilin-1 sequence variant L262F (human)
hPSEN1/var:L262F
Yes
organism-sequence


PR:000037674 presenilin-1 sequence variant C263R (human)
hPSEN1/var:C263R
Yes
organism-sequence


PR:000037675 presenilin-1 sequence variant C263F (human)
hPSEN1/var:C263F
Yes
organism-sequence


PR:000037676 presenilin-1 sequence variant P264L (human)
hPSEN1/var:P264L
Yes
organism-sequence


PR:000037677 presenilin-1 sequence variant G266S (human)
hPSEN1/var:G266S
Yes
organism-sequence


PR:000037678 presenilin-1 sequence variant P267S (human)
hPSEN1/var:P267S
Yes
organism-sequence


PR:000037680 presenilin-1 sequence variant R269H (human)
hPSEN1/var:R269H
Yes
organism-sequence


PR:000037681 presenilin-1 sequence variant R269G (human)
hPSEN1/var:R269G
Yes
organism-sequence


PR:000037682 presenilin-1 sequence variant L271V (human)
hPSEN1/var:L271V
Yes
organism-sequence


PR:000037683 presenilin-1 sequence variant V272A (human)
hPSEN1/var:V272A
Yes
organism-sequence


PR:000037684 presenilin-1 sequence variant E273A (human)
hPSEN1/var:E273A
Yes
organism-sequence


PR:000037685 presenilin-1 sequence variant T274R (human)
hPSEN1/var:T274R
Yes
organism-sequence


PR:000037686 presenilin-1 sequence variant A275V (human)
hPSEN1/var:A275V
Yes
organism-sequence


PR:000037687 presenilin-1 sequence variant R278I (human)
hPSEN1/var:R278I
Yes
organism-sequence


PR:000037688 presenilin-1 sequence variant R278K (human)
hPSEN1/var:R278K
Yes
organism-sequence


PR:000037689 presenilin-1 sequence variant R278T (human)
hPSEN1/var:R278T
Yes
organism-sequence


PR:000037690 presenilin-1 sequence variant R278S (human)
hPSEN1/var:R278S
Yes
organism-sequence


PR:000037691 presenilin-1 sequence variant E280A (human)
hPSEN1/var:E280A
Yes
organism-sequence


PR:000037692 presenilin-1 sequence variant E280G (human)
hPSEN1/var:E280G
Yes
organism-sequence


PR:000037693 presenilin-1 sequence variant L282V (human)
hPSEN1/var:L282V
Yes
organism-sequence


PR:000037694 presenilin-1 sequence variant L282F (human)
hPSEN1/var:L282F
Yes
organism-sequence


PR:000037695 presenilin-1 sequence variant L282R (human)
hPSEN1/var:L282R
Yes
organism-sequence


PR:000037696 presenilin-1 sequence variant P284L (human)
hPSEN1/var:P284L
Yes
organism-sequence


PR:000037697 presenilin-1 sequence variant P284S (human)
hPSEN1/var:P284S
Yes
organism-sequence


PR:000037698 presenilin-1 sequence variant A285V (human)
hPSEN1/var:A285V
Yes
organism-sequence


PR:000037699 presenilin-1 sequence variant L286V (human)
hPSEN1/var:L286V
Yes
organism-sequence


PR:000037700 presenilin-1 sequence variant L286P (human)
hPSEN1/var:L286P
Yes
organism-sequence


PR:000037701 presenilin-1 sequence variant T291P (human)
hPSEN1/var:T291P
Yes
organism-sequence


PR:000037702 presenilin-1 sequence variant E318G (human)
hPSEN1/var:E318G

organism-sequence


PR:000037703 presenilin-1 sequence variant D333G (human)
hPSEN1/var:D333G

organism-sequence


PR:000037704 presenilin-1 sequence variant T354I (human)
hPSEN1/var:T354I

organism-sequence


PR:000037705 presenilin-1 sequence variant R358Q (human)
hPSEN1/var:R358Q
Yes
organism-sequence


PR:000037706 presenilin-1 sequence variant S365A (human)
hPSEN1/var:S365A
Yes
organism-sequence


PR:000037707 presenilin-1 sequence variant S365Y (human)
hPSEN1/var:S365Y

organism-sequence


PR:000037708 presenilin-1 sequence variant R377M (human)
hPSEN1/var:R377M
Yes
organism-sequence


PR:000037709 presenilin-1 sequence variant G378E (human)
hPSEN1/var:G378E
Yes
organism-sequence


PR:000037710 presenilin-1 sequence variant G378V (human)
hPSEN1/var:G378V
Yes
organism-sequence


PR:000037711 presenilin-1 sequence variant L381V (human)
hPSEN1/var:L381V
Yes
organism-sequence


PR:000037712 presenilin-1 sequence variant L381F (human)
hPSEN1/var:L381F
Yes
organism-sequence


PR:000037713 presenilin-1 sequence variant G384A (human)
hPSEN1/var:G384A
Yes
organism-sequence


PR:000037714 presenilin-1 sequence variant F386S (human)
hPSEN1/var:F386S
Yes
organism-sequence


PR:000037715 presenilin-1 sequence variant S390I (human)
hPSEN1/var:S390I
Yes
organism-sequence


PR:000037716 presenilin-1 sequence variant V391F (human)
hPSEN1/var:V391F
Yes
organism-sequence


PR:000037717 presenilin-1 sequence variant L392V (human)
hPSEN1/var:L392V
Yes
organism-sequence


PR:000037718 presenilin-1 sequence variant L392P (human)
hPSEN1/var:L392P
Yes
organism-sequence


PR:000037719 presenilin-1 sequence variant G394V (human)
hPSEN1/var:G394V
Yes
organism-sequence


PR:000037720 presenilin-1 sequence variant N405S (human)
hPSEN1/var:N405S
Yes
organism-sequence


PR:000037721 presenilin-1 sequence variant A409T (human)
hPSEN1/var:A409T
Yes
organism-sequence


PR:000037722 presenilin-1 sequence variant C410Y (human)
hPSEN1/var:C410Y
Yes
organism-sequence


PR:000037723 presenilin-1 sequence variant V412I (human)
hPSEN1/var:V412I

organism-sequence


PR:000037724 presenilin-1 sequence variant L418F (human)
hPSEN1/var:L418F
Yes
organism-sequence


PR:000037725 presenilin-1 sequence variant L420R (human)
hPSEN1/var:L420R
Yes
organism-sequence


PR:000037726 presenilin-1 sequence variant L424H (human)
hPSEN1/var:L424H
Yes
organism-sequence


PR:000037727 presenilin-1 sequence variant L424R (human)
hPSEN1/var:L424R
Yes
organism-sequence


PR:000037728 presenilin-1 sequence variant L424F (human)
hPSEN1/var:L424F
Yes
organism-sequence


PR:000037729 presenilin-1 sequence variant L424V (human)
hPSEN1/var:L424V
Yes
organism-sequence


PR:000037730 presenilin-1 sequence variant A426P (human)
hPSEN1/var:A426P
Yes
organism-sequence


PR:000037731 presenilin-1 sequence variant A431V (human)
hPSEN1/var:A431V
Yes
organism-sequence


PR:000037732 presenilin-1 sequence variant A431E (human)
hPSEN1/var:A431E
Yes
organism-sequence


PR:000037733 presenilin-1 sequence variant A434C (human)
hPSEN1/var:A434C
Yes
organism-sequence


PR:000037734 presenilin-1 sequence variant A434T (human)
hPSEN1/var:A434T
Yes
organism-sequence


PR:000037735 presenilin-1 sequence variant L435F (human)
hPSEN1/var:L435F
Yes
organism-sequence


PR:000037736 presenilin-1 sequence variant P436S (human)
hPSEN1/var:P436S
Yes
organism-sequence


PR:000037737 presenilin-1 sequence variant P436Q (human)
hPSEN1/var:P436Q
Yes
organism-sequence


PR:000037738 presenilin-1 sequence variant I439S (human)
hPSEN1/var:I439S
Yes
organism-sequence


PR:000037739 presenilin-1 sequence variant I439V (human)
hPSEN1/var:I439V

organism-sequence


PR:000037740 presenilin-1 sequence variant T440del (human)
hPSEN1/var:T440del
Yes
organism-sequence


PR:000044551 presenilin-1 sequence variant F386I (human)
hPSEN1/var:F386I
Yes
organism-sequence


PR:000044552 presenilin-1 sequence variant F388L (human)
hPSEN1/var:F388L
Yes
organism-sequence


PR:000044553 presenilin-1 sequence variant G209A (human)
hPSEN1/var:G209A
Yes
organism-sequence


PR:000044554 presenilin-1 sequence variant H214N (human)
hPSEN1/var:H214N
Yes
organism-sequence


PR:000044555 presenilin-1 sequence variant I408T (human)
hPSEN1/var:I408T
Yes
organism-sequence


PR:000044556 presenilin-1 sequence variant N135Y (human)
hPSEN1/var:N135Y
Yes
organism-sequence


PR:000044557 presenilin-1 sequence variant P267A (human)
hPSEN1/var:P267A
Yes
organism-sequence


PR:000044558 presenilin-1 sequence variant R220P (human)
hPSEN1/var:R220P
Yes
organism-sequence


PR:000044559 presenilin-1 sequence variant S169del (human)
hPSEN1/var:S169del
Yes
organism-sequence


PR:000044632 presenilin-1 sequence variant F205L (human)
hPSEN1/var:F205L

organism-sequence


PR:000044635 presenilin-1 sequence variant I213L (human)
hPSEN1/var:I213L

organism-sequence


PR:000045447 presenilin-1 sequence variant E69D (human)
hPSEN1/var:E69D

organism-sequence


PR:000045448 presenilin-1 sequence variant I83T (human)
hPSEN1/var:I83T
Yes
organism-sequence


PR:000045449 presenilin-1 sequence variant T99A (human)
hPSEN1/var:T99A

organism-sequence


PR:000045450 presenilin-1 sequence variant R108Q (human)
hPSEN1/var:R108Q

organism-sequence


PR:000045451 presenilin-1 sequence variant T116R (human)
hPSEN1/var:T116R
Yes
organism-sequence


PR:000045452 presenilin-1 sequence variant H131R (human)
hPSEN1/var:H131R

organism-sequence


PR:000045453 presenilin-1 sequence variant L134R (human)
hPSEN1/var:L134R
Yes
organism-sequence


PR:000045454 presenilin-1 sequence variant L150P (human)
hPSEN1/var:L150P
Yes
organism-sequence


PR:000045455 presenilin-1 sequence variant A164V (human)
hPSEN1/var:A164V
Yes
organism-sequence


PR:000045456 presenilin-1 sequence variant L166V (human)
hPSEN1/var:L166V
Yes
organism-sequence


PR:000045457 presenilin-1 sequence variant I168T (human)
hPSEN1/var:I168T

organism-sequence


PR:000045458 presenilin-1 sequence variant F176L (human)
hPSEN1/var:F176L

organism-sequence


PR:000045459 presenilin-1 sequence variant E184G (human)
hPSEN1/var:E184G
Yes
organism-sequence


PR:000045460 presenilin-1 sequence variant I202F (human)
hPSEN1/var:I202F
Yes
organism-sequence


PR:000045461 presenilin-1 sequence variant L219R (human)
hPSEN1/var:L219R

organism-sequence


PR:000045462 presenilin-1 sequence variant L226F (human)
hPSEN1/var:L226F
Yes
organism-sequence


PR:000045463 presenilin-1 sequence variant S230R (human)
hPSEN1/var:S230R
Yes
organism-sequence


PR:000045464 presenilin-1 sequence variant S230I (human)
hPSEN1/var:S230I
Yes
organism-sequence


PR:000045465 presenilin-1 sequence variant A231P (human)
hPSEN1/var:A231P
Yes
organism-sequence


PR:000045466 presenilin-1 sequence variant L235R (human)
hPSEN1/var:L235R
Yes
organism-sequence


PR:000045467 presenilin-1 sequence variant A246P (human)
hPSEN1/var:A246P
Yes
organism-sequence


PR:000045468 presenilin-1 sequence variant L262V (human)
hPSEN1/var:L262V
Yes
organism-sequence


PR:000045469 presenilin-1 sequence variant E273G (human)
hPSEN1/var:E273G
Yes
organism-sequence


PR:000045470 presenilin-1 sequence variant E280K (human)
hPSEN1/var:E280K
Yes
organism-sequence


PR:000045471 presenilin-1 sequence variant R352C (human)
hPSEN1/var:R352C

organism-sequence


PR:000045472 presenilin-1 sequence variant R377W (human)
hPSEN1/var:R377W
Yes
organism-sequence


PR:000045473 presenilin-1 sequence variant S390N (human)
hPSEN1/var:S390N
Yes
organism-sequence


PR:000045474 presenilin-1 sequence variant A396T (human)
hPSEN1/var:A396T
Yes
organism-sequence


PR:000045475 presenilin-1 sequence variant I437V (human)
hPSEN1/var:I437V
Yes
organism-sequence


PR:000050490 presenilin-1 sequence variant P433S (human)
hPSEN1/var:P433S

organism-sequence


PR:P49768-1 presenilin-1 isoform 1 (human)
hPSEN1/iso:1

organism-sequence


PR:P49768-2 presenilin-1 isoform h2 (human)
hPSEN1/iso:h2

organism-sequence


PR:P49768-3 presenilin-1 isoform h3 (human)
hPSEN1/iso:h3

organism-sequence


PR:P49768-4 presenilin-1 isoform h4 (human)
hPSEN1/iso:h4

organism-sequence


PR:P49768-5 presenilin-1 isoform h5 (human)
hPSEN1/iso:h5

organism-sequence


PR:P49768-6 presenilin-1 isoform h6 (human)
hPSEN1/iso:h6

organism-sequence


PR:P49768-7 presenilin-1 isoform h7 (human)
hPSEN1/iso:h7

organism-modification


PR:000045805 presenilin-1 phosphorylated 1 (human)
hPSEN1/Phos:1

organism-modification


PR:000071321 presenilin-1 cysteinylated 1 (human)
hPSEN1/Cyst:1

organism-modification


PR:000081677 presenilin-1 deaminated 1 (human)
hPSEN1/Deam:1

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