rs117260922
This is a variant in the SORL1 gene that changes a glutamate to an lysine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Coding mutations in SORL1 and Alzheimer diseaseAssociationN=1,449Badri N. Vardarajan et al.(2015)· Annals of Neurology
Family- and cohort-based genetic association study identifying 17 coding mutations in SORL1 associated with late-onset Alzheimer's disease (LOAD) in Caribbean Hispanics. Three variants (rs2298813-A528T, rs117260922-E270K, rs143571823-T947M) segregated significantly within families. Functional studies showed E270K and T947M increase Aβ40 and Aβ42 secretion, while A528T increases Aβ42 secretion (p<0.01), suggesting SORL1 mutations impair APP processing.
About SORL1
This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]
View all SORL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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