Mutations

TREM2 A130V

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype:
Reference Assembly: GRCh37/hg19
Position: Chr6:41129003 C>T
dbSNP ID: rs201280312
Coding/Non-Coding: Coding
Mutation Type: Point, 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. . 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. . 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

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