[Term]
id: PR:000037664
name: presenilin-1 sequence variant A246E (human)
def: "A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Ala-246 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-246, CHEBI:29972." [PRO:DAN, Alzforum:KD, PMID:7596406]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:A246E" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768, Ala-246, CHEBI:29972" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49768-1, Ala-246, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006439
xref: Alzforum_mut:psen1-a246e
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens