rs63750197
This is a variant in the PSEN2 gene that changes a serine to an leucine.
▶ClinVar annotation
Alzheimer disease; Alzheimer disease 4 (AD4); Dilated cardiomyopathy 1V (CMD1V); PSEN2-related disorder; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Identification of New Presenilin Gene Mutations in Early-Onset Familial Alzheimer DiseaseCase reportN=45Andrea Tedde et al.(2003)· Archives of Neurology
A screening study of presenilin 1 (PS1), presenilin 2 (PS2), and β-amyloid precursor protein (APP) genes in 45 Italian patients with familial Alzheimer disease identified three novel mutations: PS2 Ser130Leu in family FLO56 (variable age at onset 35-85 years), PS1 Cys92Ser in families FLO28 and FLO57 (age at onset 49-54 years), and PS1 Leu174Met in family FLO55. Additionally, a fourth Italian family carrying the previously known APP Val717Ile mutation was identified.
About PSEN2
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]
View all PSEN2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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