Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity, Frontotemporal Dementia : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41161604 G>A
Position: (GRCh37/hg19):Chr6:41129342 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: 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).

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References

Paper Citations

1. Cuyvers E, Bettens K, Philtjens S, Van Langenhove T, Gijselinck I, van der Zee J, Engelborghs S, Vandenbulcke M, Van Dongen J, Geerts N, Maes G, Mattheijssens M, Peeters K, Cras P, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Cruts M, Sleegers K, BELNEU consortium. 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