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Protein Ontology report - presenilin-2 sequence variant T430M (human) PR:000037768 - http://purl.obolibrary.org/obo/PR_000037768        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000037768      PRO name presenilin-2 sequence variant T430M (human)    Synonyms PRO-Short-label: EXACT: hPSEN2/var:T430M PRO-proteoform-std: EXACT: UniProtKB:P49810, Thr-430, CHEBI:16044 NARROW: UniProtKB:P49810-1, Thr-430, CHEBI:16044   Definition "A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Thr-430 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-430, CHEBI:16044." [Alzforum:KD, PMID:12925374, PRO:DAN]    Comment Requested by=Alzforum.    PRO Category organism-sequence    Parent PR:000036286 presenilin-2 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:000037768 hPSEN2/var:T430M Example: UniProtKB:P49810-1, Thr-430, CHEBI:16044 associated_with_disease_progression DO:10652 Alzheimer's disease Alzforum:psen2-t430m