[Term]
id: PR:000037748
name: presenilin-2 sequence variant T122P (human)
def: "A presenilin-2 sequence variant (human) that has a Pro residue at the position equivalent to Thr-122 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-122, CHEBI:50342." [Alzforum:KD, PMID:10631141, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:T122P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Thr-122, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_009214
xref: Alzforum_mut:psen2-t122p
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens