[Term]
id: PR:000037722
name: presenilin-1 sequence variant C410Y (human)
def: "A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Cys-410 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-410, CHEBI:46858." [Alzforum:KD, PMID:7596406, PMID:8634712, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:C410Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Cys-410, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006458
xref: Alzforum_mut:psen1-c410y
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens