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Protein Ontology report - presenilin-1 sequence variant L219F (human) PR:000037644 - http://purl.obolibrary.org/obo/PR_000037644        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000037644      PRO name presenilin-1 sequence variant L219F (human)    Synonyms PRO-Short-label: EXACT: hPSEN1/var:L219F PRO-proteoform-std: EXACT: UniProtKB:P49768, Leu-219, CHEBI:29997 NARROW: UniProtKB:P49768-1, Leu-219, CHEBI:29997   Definition "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29997." [Alzforum:KD, PRO:DAN]    Comment Requested by=Alzforum.    PRO Category organism-sequence    Parent PR:000036285 presenilin-1 sequence variant (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000037644 hPSEN1/var:L219F Example: UniProtKB:P49768-1, Leu-219, CHEBI:29997 associated_with_disease_progression DO:10652 Alzheimer's disease Alzforum:psen1-l219f