Mutations

TREM2 G58A

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity, Frontotemporal Dementia : Unclear Pathogenicity
Reference Assembly: GRCh37/hg19
Position: Chr6:41129219 G>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GGC to GCC
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The G58A variant was found in one of 1216 Alzheimer’s patients, and in none of 359 FTD patients or 1094 cognitively healthy controls in a Belgian study (Cuyvers et al., 2014).

Neuropathology

No data.

Biological Effect

The glycine-to-alanine substitution at amino acid 58 was predicted by Polyphen2 to be probably damaging, but by SIFT to be tolerated, and by SNPs&Go to be neutral (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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