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Protein Ontology report - presenilin-1 sequence variant L174M (human) PR:000037622 - http://purl.obolibrary.org/obo/PR_000037622        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000037622      PRO name presenilin-1 sequence variant L174M (human)    Synonyms PRO-Short-label: EXACT: hPSEN1/var:L174M PRO-proteoform-std: EXACT: UniProtKB:P49768, Leu-174, CHEBI:16044 NARROW: UniProtKB:P49768-1, Leu-174, CHEBI:16044   Definition "A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Leu-174 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-174, CHEBI:16044." [Alzforum:KD, PMID:12484344, 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 Related Cross References   Db identifiers UniProtKB_VAR:VAR_016217 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000037622 hPSEN1/var:L174M Example: UniProtKB:P49768-1, Leu-174, CHEBI:16044 associated_with_disease_progression DO:10652 Alzheimer's disease Alzforum:psen1-l174m