Mutations

TREM2 A192T

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype:
Reference Assembly: GRCh37 (105)
Position: Chr6:41126713 G>A
dbSNP ID: rs150277350
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCC to ACC
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 4

Findings

In a case-control study of almost 34,000 Caucasian individuals, the A192T variant did not associate with Alzheimer’s disease (approximately 18,000 AD and 16,000 controls; odds ratio: 4.57, p = 0.17) (Sims et al., 2017). Nor did the variant associate with AD in a smaller study of Han Chinese, where it was found in two of 988 AD patients and none of 1354 controls (p = 0.71) (Jiang et al., 2016).

Neuropathology

No data.

Biological Effect

The alanine-to-threonine substitution at amino acid 192 was predicted to be possibly damaging by Polyphen2 (Jiang et al., 2016).

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. . Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 Sep;49(9):1373-1384. Epub 2017 Jul 17 PubMed.
  2. . A rare coding variant in TREM2 increases risk for Alzheimer's disease in Han Chinese. Neurobiol Aging. 2016 Jun;42:217.e1-3. Epub 2016 Mar 3 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 Sep;49(9):1373-1384. Epub 2017 Jul 17 PubMed.
  2. . A rare coding variant in TREM2 increases risk for Alzheimer's disease in Han Chinese. Neurobiol Aging. 2016 Jun;42:217.e1-3. Epub 2016 Mar 3 PubMed.

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