Mutations

TREM2 A130V

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41161265 C>T
Position: (GRCh37/hg19):Chr6:41129003 C>T
dbSNP ID: rs201280312
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GCA to GTA
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The A130V variant was found in 2 of 228 patients and none of 400 controls (p= 0.13) in a study of Han Chinese (Jiao et al., 2014).

Neuropathology

No data.

Biological effect

This variant was predicted by SIFT to be damaging.

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. Jiao B, Liu X, Tang B, Hou L, Zhou L, Zhang F, Zhou Y, Guo J, Yan X, Shen L. Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China. Neurobiol Aging. 2014 Oct;35(10):2422.e9-2422.e11. Epub 2014 May 1 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Jiao B, Liu X, Tang B, Hou L, Zhou L, Zhang F, Zhou Y, Guo J, Yan X, Shen L. Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China. Neurobiol Aging. 2014 Oct;35(10):2422.e9-2422.e11. Epub 2014 May 1 PubMed.

Other mutations at this position

View Table

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