[Term]
id: PR:000037769
name: presenilin-2 sequence variant D439A (human)
def: "A presenilin-2 sequence variant (human) that has an Ala residue at the position equivalent to Asp-439 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Asp-439, CHEBI:46217." [PRO:DAN, Alzforum:KD, PMID:11723295]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:D439A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810, Asp-439, CHEBI:46217" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49810-1, Asp-439, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-d439a
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens