Mutations

SORL1 c.3580+229G>A

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121577629 G>A
Position: (GRCh37/hg19):Chr11:121448338 G>A
dbSNP ID: rs3781836
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 25

Findings

This variant is one of 31 intronic variants in SORL1 that compose a haplotype associated with a reduced risk of Alzheimer’s disease and with certain AD-related endophenotypes in people of East Asian ancestry (Zhou et al., 2024). The variant resides within a candidate cis-regulatory element.

Last Updated: 12 Feb 2025

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References

Mutations Citations

  1. SORL1 Haplotype A

Paper Citations

  1. Zhou X, Cao H, Jiang Y, Chen Y, Zhong H, Fu WY, Lo RM, Wong BW, Cheng EY, Mok KY, Kwok TC, Mok VC, Ip FC, Alzheimer's Disease Neuroimaging Initiative, Miyashita A, Hara N, Ikeuchi T, Hardy J, Chen Y, Fu AK, Ip NY. Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease. Alzheimers Dement. 2025 Jan;21(1):e14214. Epub 2024 Dec 10 PubMed.

Further Reading

Protein Diagram

Primary Papers

  1. Zhou X, Cao H, Jiang Y, Chen Y, Zhong H, Fu WY, Lo RM, Wong BW, Cheng EY, Mok KY, Kwok TC, Mok VC, Ip FC, Alzheimer's Disease Neuroimaging Initiative, Miyashita A, Hara N, Ikeuchi T, Hardy J, Chen Y, Fu AK, Ip NY. Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease. Alzheimers Dement. 2025 Jan;21(1):e14214. Epub 2024 Dec 10 PubMed.
  2. Bralten J, Arias-Vásquez A, Makkinje R, Veltman JA, Brunner HG, Fernández G, Rijpkema M, Franke B. Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults. Am J Psychiatry. 2011 Oct;168(10):1083-9. PubMed.

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