Mutations

SORL1 L1644Ter

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121605551 C>-
Position: (GRCh37/hg19):Chr11:121476260 C>-
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Deletion
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 35

Findings

This variant was identified in a family- and cohort-based study of Caribbean Hispanics (Vardarajan et al., 2015). Joint linkage and association analysis, an analytical method that allows researchers to analyze together data from families and unrelated subjects, showed that this variant associated with Alzheimer’s disease.

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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