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Protein Ontology report - presenilin-1 sequence variant E280A (human)
PR:000037691 - http://purl.obolibrary.org/obo/PR_000037691
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000037691   
  PRO namepresenilin-1 sequence variant E280A (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN1/var:E280A
PRO-proteoform-std: EXACT:UniProtKB:P49768, Glu-280, CHEBI:46217
NARROW:UniProtKB:P49768-1, Glu-280, CHEBI:46217
Other: EXACT:Paisa PSEN1
  Definition"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:46217." [Alzforum:KD, PMID:7550356, PMID:9052708, 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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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_006450
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Functional Annotation (GO-centric view) Switch to PRO Centric View     

Disease Associated GO Term

Protein Forms & Complexes

Evidence
DO:10652 Alzheimer's diseasePR:000037691 hPSEN1/var:E280A Alzforum:psen1-e280a-paisa