[Term]
id: PR:000044561
name: presenilin-2 sequence variant L238P (human)
def: "A presenilin-2 sequence variant (human) that has a Pro residue at the position equivalent to Leu-238 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Leu-238, CHEBI:50342." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:L238P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Leu-238, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-l238p
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens