[Term]
id: PR:000037720
name: presenilin-1 sequence variant N405S (human)
def: "A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Asn-405 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-405, CHEBI:29999." [PRO:DAN, Alzforum:KD, PMID:10644793]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:N405S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768, Asn-405, CHEBI:29999" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49768-1, Asn-405, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_010129
xref: Alzforum_mut:psen1-n405s
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens