Mutations

SORL1 S516N

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121522940 G>A
Position: (GRCh37/hg19):Chr11:121393649 G>A
dbSNP ID: rs200748970
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Missense
Codon Change: AGC to AAC
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 11

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 four times—twice among the AD cases and twice among the controls (Henne Holstege, personal communication).

This variant did not associate with MMSE score in a sample of 634 individuals from the Taiwan Brain Bank (Lin et al., 2017).

Last Updated: 18 Jul 2024

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References

Paper Citations

  1. Lin E, Tsai SJ, Kuo PH, Liu YL, Yang AC, Kao CF. Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population. Oncotarget. 2017 Apr 11;8(15):24077-24087. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Lin E, Tsai SJ, Kuo PH, Liu YL, Yang AC, Kao CF. Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population. Oncotarget. 2017 Apr 11;8(15):24077-24087. PubMed.

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