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Protein Ontology report - presenilin-1 sequence variant V89L (human)
PR:000037560 - http://purl.obolibrary.org/obo/PR_000037560
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000037560   
  PRO namepresenilin-1 sequence variant V89L (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN1/var:V89L
PRO-proteoform-std: EXACT:UniProtKB:P49768, Val-89, CHEBI:30006
NARROW:UniProtKB:P49768-1, Val-89, CHEBI:30006
  Definition"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-89 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-89, CHEBI:30006." [Alzforum:KD, PMID:11796781, PRO:DAN] 
  CommentRequested by=Alzforum. 
  PRO Categoryorganism-sequence 
  ParentPR:000036285 presenilin-1 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:000037560 hPSEN1/var:V89L
Example: UniProtKB:P49768-1, Val-89, CHEBI:30006		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen1-v89l