[Term] id: PR:000037664 name: presenilin-1 sequence variant A246E (human) def: "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: Category=organism-sequence. Requested by=Alzforum. synonym: "hPSEN1/var:A246E" EXACT PRO-short-label [PRO:DAN] synonym: "UniProtKB:P49768-1, Ala-246, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DNx] xref: UniProtKB_VAR:VAR_006439 xref: Alzforum_mut:psen1-a246e is_a: PR:000036285 ! presenilin-1 sequence variant (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens