[Term]
id: PR:000037750
name: presenilin-2 sequence variant E126K (human)
def: "A presenilin-2 sequence variant (human) that has a Lys residue at the position equivalent to Glu-126 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Glu-126, CHEBI:29967." [Alzforum:KD, PMID:24844686, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:E126K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Glu-126, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-e126k
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens