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Protein Ontology report - presenilin-1 sequence variant D40del (human)
PR:000037556 - http://purl.obolibrary.org/obo/PR_000037556
 
     
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:000037556   
  PRO namepresenilin-1 sequence variant D40del (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN1/var:D40del
PRO-proteoform-std: EXACT:UniProtKB:P49768, 1-39, 41-467
NARROW:UniProtKB:P49768-1, 1-39, 41-467
  Definition"A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Asp-40 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-39, 41-467." [Alzforum:KD, PMID:24463146, PRO:DAN] 
  CommentRequested by=Alzforum. 
  PRO Categoryorganism-sequence 
  ParentPR:000036285 presenilin-1 sequence variant (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS: