[Term]
id: PR:000037640
name: presenilin-1 sequence variant H214Y (human)
def: "A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:46858." [Alzforum:KD, PMID:16033913, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:H214Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, His-214, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_070024
xref: Alzforum_mut:psen1-h214y
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens