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Protein Ontology report - presenilin-1 sequence variant Q223R (human)
PR:000037648 - http://purl.obolibrary.org/obo/PR_000037648
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000037648   
  PRO namepresenilin-1 sequence variant Q223R (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN1/var:Q223R
PRO-proteoform-std: EXACT:UniProtKB:P49768, Gln-223, CHEBI:29952
NARROW:UniProtKB:P49768-1, Gln-223, CHEBI:29952
  Definition"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-223 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-223, CHEBI:29952." [Alzforum:KD, PMID:19912322, 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:000037648 hPSEN1/var:Q223R
Example: UniProtKB:P49768-1, Gln-223, CHEBI:29952		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen1-q223r