|| common in clinvar
|| early-onset Alzheimer's disease
rs63750215, also known as c.422A>T, N141I or Asn141Ile, is a SNP in the presenilin 2 PSEN2 gene.
Inherited as an autosomal dominant, the rare rs63750215(T) allele is considered causative for early-onset Alzheimer's disease; see [PMID 8661049]. The actual age of onset appears to be somewhat modified by other loci.[PMID 15389756]
[PMID 7638622] Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
[PMID 7651536] Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
[PMID 9050898] The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.
[PMID 9813158] Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion: control by the proteasome.