Mutations

TREM2 D131D

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype:
Reference Assembly: GRCh37 (105)
Position: Chr6:41127619 C>T
dbSNP ID: rs139607688
Coding/Non-Coding: Coding
Mutation Type: Point, Silent
Codon Change: GAC to GAT
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 3

Findings

The D131D variant was not associated with AD in a case-control study of more than 33,000 Caucasian subjects (approximately 18,000 AD and 16,000 controls; odds ratio: 5.69, p = 0.39) (Sims et al., 2017).

Neuropathology

No data.

Biological Effect

No data.

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.

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.

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