[Term]
id: PR:000045486
name: presenilin-2 sequence variant P334A (human)
def: "A presenilin-2 sequence variant (human) that has an Ala residue at the position equivalent to Pro-334 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-334, CHEBI:46217." [PRO:DAN, Alzforum:KD, PMID:25333068]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:P334A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810, Pro-334, CHEBI:46217" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49810-1, Pro-334, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-p334a
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens