Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121543559 A>G
Position: (GRCh37/hg19):Chr11:121414268 A>G
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Missense
Codon Change: AAT to AGT
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 13

Findings

In a study that included 18,959 Alzheimer’s cases and 21,893 control subjects from multiple European and American cohorts, this allele was observed once among the AD cases (Henne Holstege, personal communication).

Functional Consequences

Asparagine-566 is part of a conserved motif within the propellers of the VPS10P domain called the “Asp-box.” While the function of this motif is not known, it has been suggested that it stabilizes the propeller. Andersen and colleagues have predicted that mutations at this position are highly likely to associate with AD risk (Andersen et al., 2023).

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References

Paper Citations

1. Andersen OM, Monti G, Jensen AM, deWaal M, Hulsman M, Olsen JG, Holstege H. Relying on the relationship with known disease-causing variants in homologous proteins to predict pathogenicity of SORL1 variants in Alzheimer's disease. 2023 Feb 27 10.1101/2023.02.27.524103 (version 1) bioRxiv.

Further Reading

No Available Further Reading