Mutations

SORL1 N174del

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121478233_121478235 ACA>---
Position: (GRCh37/hg19):Chr11:121348942-121348944 ACA>---
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Deletion
Expected Protein Consequence: Deletion
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 3

Findings

The variant was identified in two of 211 Alzheimer’s cases of North European ancestry; ethnically matched controls were not included in this study (Vardarajan et al., 2015).

Last Updated: 18 Jul 2024

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References

Paper Citations

  1. Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E, St George-Hyslop P, Mayeux R. Coding mutations in SORL1 and Alzheimer disease. Ann Neurol. 2015 Feb;77(2):215-27. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E, St George-Hyslop P, Mayeux R. Coding mutations in SORL1 and Alzheimer disease. Ann Neurol. 2015 Feb;77(2):215-27. PubMed.

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