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Protein Ontology report - presenilin-2 sequence variant G212V (human)
PR:000044560 - http://purl.obolibrary.org/obo/PR_000044560
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000044560   
  PRO namepresenilin-2 sequence variant G212V (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN2/var:G212V
PRO-proteoform-std: EXACT:UniProtKB:P49810, Gly-212, CHEBI:30015
NARROW:UniProtKB:P49810-1, Gly-212, CHEBI:30015
  Definition"A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Gly-212 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Gly-212, CHEBI:30015." [Alzforum:KD, 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:000044560 hPSEN2/var:G212V
Example: UniProtKB:P49810-1, Gly-212, CHEBI:30015		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-g212v