rs61741871
This variant is located in the CELSR1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European AncestryAssociationN=10,211Devanshi Patel et al.(2019)· JAMA Network Open
This whole-exome and whole-genome sequencing study identified rare coding mutations associated with Alzheimer disease (AD) and other dementias in 5617 European ancestry AD cases and 4594 controls. Key findings include a missense mutation in NOTCH3 (rs149307620, p.A284T) present in 11 AD cases but no controls, and a stop-gain mutation in TREM2 (rs104894002, p.Q33X) in 4 AD cases. The study identified 24 variants in 19 genes with moderate or high functional impact in AD cases but absent in controls, and found that AD participants had a significantly higher burden of deleterious rare variants in dementia-associated genes (P = 0.006).
About CELSR1
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
View all CELSR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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