[Term]
id: PR:000037743
name: presenilin-2 sequence variant R62H (human)
def: "A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Arg-62 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-62, CHEBI:29979." [PRO:DAN, Alzforum:KD, PMID:19768372, PMID:9384602]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:R62H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810, Arg-62, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49810-1, Arg-62, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006461
xref: Alzforum_mut:psen2-r62h
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens