[Term]
id: PR:000037709
name: presenilin-1 sequence variant G378E (human)
def: "A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Gly-378 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-378, CHEBI:29972." [PRO:DAN, Alzforum:KD, PMID:10200054]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:G378E" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768, Gly-378, CHEBI:29972" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49768-1, Gly-378, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006455
xref: Alzforum_mut:psen1-g378e
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens