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Protein Ontology report - presenilin-2 sequence variant Q228L (human) PR:000037761 - http://purl.obolibrary.org/obo/PR_000037761        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000037761      PRO name presenilin-2 sequence variant Q228L (human)    Synonyms PRO-Short-label: EXACT: hPSEN2/var:Q228L PRO-proteoform-std: EXACT: UniProtKB:P49810, Gln-228, CHEBI:30006 NARROW: UniProtKB:P49810-1, Gln-228, CHEBI:30006   Definition "A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Gln-228 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Gln-228, CHEBI:30006." [Alzforum:KD, PMID:14769392, 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 (GO-centric view) Switch to PRO Centric View       Disease Associated GO Term Protein Forms & Complexes Evidence DO:10652 Alzheimer's disease PR:000037761 hPSEN2/var:Q228L Alzforum:psen2-q228l