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Protein Ontology report - presenilin-2 sequence variant (human)
PR:000036286 - http://purl.obolibrary.org/obo/PR_000036286
 
  Protein Forms      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:000036286   
  PRO namepresenilin-2 sequence variant (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN2/var+
  Definition"A presenilin-2 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-2 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-2 (human). Operationally, this means the sequence representation of the presenilin-2 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represened by UniProtKB:P49810-1." [PRO:DAN] 
  CommentRequested by=Alzforum. 
  PRO Categoryorganism-sequence 
  ParentPR:P49810 presenilin-2 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Sequence0                                                  Organism-Sequence 0                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

Comp. In Complex?
organism-sequence


PR:000036286 presenilin-2 sequence variant (human)
hPSEN2/var+





PR:000037741 presenilin-2 sequence variant R29H (human)





PR:000037742 presenilin-2 sequence variant G34S (human)





PR:000037743 presenilin-2 sequence variant R62H (human)





PR:000037744 presenilin-2 sequence variant R62C (human)





PR:000037745 presenilin-2 sequence variant P69A (human)





PR:000037746 presenilin-2 sequence variant R71W (human)





PR:000037747 presenilin-2 sequence variant A85V (human)





PR:000037748 presenilin-2 sequence variant T122P (human)





PR:000037749 presenilin-2 sequence variant T122R (human)





PR:000037750 presenilin-2 sequence variant E126K (human)





PR:000037751 presenilin-2 sequence variant S130L (human)





PR:000037752 presenilin-2 sequence variant V139M (human)





PR:000037753 presenilin-2 sequence variant N141I (human)





PR:000037754 presenilin-2 sequence variant N141Y (human)





PR:000037755 presenilin-2 sequence variant L143H (human)





PR:000037756 presenilin-2 sequence variant V148I (human)





PR:000037757 presenilin-2 sequence variant R163H (human)





PR:000037758 presenilin-2 sequence variant M174V (human)





PR:000037759 presenilin-2 sequence variant S175C (human)





PR:000037760 presenilin-2 sequence variant V214L (human)





PR:000037761 presenilin-2 sequence variant Q228L (human)





PR:000037762 presenilin-2 sequence variant Y231C (human)





PR:000037763 presenilin-2 sequence variant M239V (human)





PR:000037764 presenilin-2 sequence variant M239I (human)

organism-sequence


PR:000037765 presenilin-2 sequence variant A252T (human)
hPSEN2/var:A252T





PR:000037766 presenilin-2 sequence variant P334R (human)





PR:000037767 presenilin-2 sequence variant V393M (human)





PR:000037768 presenilin-2 sequence variant T430M (human)





PR:000037769 presenilin-2 sequence variant D439A (human)





PR:000044560 presenilin-2 sequence variant G212V (human)





PR:000044561 presenilin-2 sequence variant L238P (human)





PR:000044562 presenilin-2 sequence variant P348L (human)





PR:000044563 presenilin-2 sequence variant T18M (human)





PR:000045476 presenilin-2 sequence variant K82R (human)





PR:000045477 presenilin-2 sequence variant V101M (human)





PR:000045478 presenilin-2 sequence variant P123L (human)





PR:000045479 presenilin-2 sequence variant K161R (human)





PR:000045480 presenilin-2 sequence variant H169N (human)





PR:000045481 presenilin-2 sequence variant I235F (human)

organism-sequence


PR:000045482 presenilin-2 sequence variant A237V (human)
hPSEN2/var:A237V





PR:000045483 presenilin-2 sequence variant L238F (human)

organism-sequence


PR:000045484 presenilin-2 sequence variant A258T (human)
hPSEN2/var:A258T





PR:000045485 presenilin-2 sequence variant T301M (human)





PR:000045486 presenilin-2 sequence variant P334A (human)

organism-sequence


PR:000045487 presenilin-2 sequence variant A377V (human)
hPSEN2/var:A377V