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Protein Ontology report - presenilin-2 sequence variant E126K (human) PR:000037750 - http://purl.obolibrary.org/obo/PR_000037750        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000037750      PRO name presenilin-2 sequence variant E126K (human)    Synonyms PRO-Short-label: EXACT: hPSEN2/var:E126K PRO-proteoform-std: EXACT: UniProtKB:P49810, Glu-126, CHEBI:29967 NARROW: UniProtKB:P49810-1, Glu-126, CHEBI:29967   Definition "A presenilin-2 sequence variant (human) that has a Lys residue at the position equivalent to Glu-126 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Glu-126, CHEBI:29967." [Alzforum:KD, PMID:24844686, 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:000037750 hPSEN2/var:E126K Example: UniProtKB:P49810-1, Glu-126, CHEBI:29967 associated_with_disease_progression DO:10652 Alzheimer's disease Alzforum:psen2-e126k