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Protein Ontology report - presenilin-2 sequence variant V214L (human)
PR:000037760 - http://purl.obolibrary.org/obo/PR_000037760
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000037760   
  PRO namepresenilin-2 sequence variant V214L (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN2/var:V214L
PRO-proteoform-std: EXACT:UniProtKB:P49810, Val-214, CHEBI:30006
NARROW:UniProtKB:P49810-1, Val-214, CHEBI:30006
  Definition"A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Val-214 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-214, CHEBI:30006." [Alzforum:KD, PMID:24885952, PRO:DAN] 
  CommentRequested by=Alzforum. 
  PRO Categoryorganism-sequence 
  ParentPR:000036286 presenilin-2 sequence variant (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000037760 hPSEN2/var:V214L
Example: UniProtKB:P49810-1, Val-214, CHEBI:30006		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-v214l