Home |   Linked Open Data |   Browse |   Search |   Statistics |   Download  RACE-PRO  PRO tracker  Community  PRO Consortium  Publications  Documentation

Protein Ontology report - presenilin-1 sequence variant A246E (human) PR:000037664 - http://purl.obolibrary.org/obo/PR_000037664        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000037664      PRO name presenilin-1 sequence variant A246E (human)    Synonyms PRO-Short-label: EXACT: hPSEN1/var:A246E PRO-proteoform-std: EXACT: UniProtKB:P49768, Ala-246, CHEBI:29972 NARROW: UniProtKB:P49768-1, Ala-246, CHEBI:29972   Definition "A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Ala-246 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-246, CHEBI:29972." [Alzforum:KD, PMID:7596406, 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_006439 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:000037664 hPSEN1/var:A246E Alzforum:psen1-a246e