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Protein Ontology report - presenilin-1 sequence variant L250S (human) PR:000037667 - http://purl.obolibrary.org/obo/PR_000037667        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000037667      PRO name presenilin-1 sequence variant L250S (human)    Synonyms PRO-Short-label: EXACT: hPSEN1/var:L250S PRO-proteoform-std: EXACT: UniProtKB:P49768, Leu-250, CHEBI:29999 NARROW: UniProtKB:P49768-1, Leu-250, CHEBI:29999   Definition "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-250, CHEBI:29999." [Alzforum:KD, PMID:8733749, PMID:9436726, 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_006440 Back to top Functional Annotation (GO-centric view) Switch to PRO Centric View       Disease Associated GO Term Protein Forms & Complexes Evidence DO:10652 Alzheimer's disease PR:000037667 hPSEN1/var:L250S Alzforum:psen1-l250s