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
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: 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).

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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