[Term]
id: PR:000037760
name: presenilin-2 sequence variant V214L (human)
def: "A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Val-214 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-214, CHEBI:30006." [Alzforum:KD, PMID:24885952, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:V214L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Val-214, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-v214l
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens