Mutations

TREM2 G17E

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity, Frontotemporal Dementia : Unclear Pathogenicity
Clinical Phenotype:
Reference Assembly: GRCh37/hg19
Position: Chr6:41129342 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GGA to GAA
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

In a Belgian study, the G17E variant was found in one cognitively healthy control (of 1094 subjects), but in none of 1216 Alzheimer’s or 359 FTD patients (Cuyvers et al., 2014).

Neuropathology

No data.

Biological Effect

The glycine-to-glutamate substitution at amino acid 17 was predicted to be benign by Polyphen-2, tolerated by SIFT, and neutral by SNPs&Go (Cuyvers et al., 2014).

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. . Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia. Neurobiol Aging. 2014 Mar;35(3):726.e11-9. Epub 2013 Oct 9 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia. Neurobiol Aging. 2014 Mar;35(3):726.e11-9. Epub 2013 Oct 9 PubMed.

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