[Term]
id: PR:000045473
name: presenilin-1 sequence variant S390N (human)
def: "A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Ser-390 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-390, CHEBI:50347." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S390N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Ser-390, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-s390n
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens