Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity, Frontotemporal Dementia : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41161308 A>T
Position: (GRCh37/hg19):Chr6:41129046 A>T
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: AGT to TGT
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

In an Italian study, the S116C variant was found in none of 194 Alzheimer’s patients, one of 352 FTD patients, and none of 484 cognitively healthy controls (Borroni et al., 2014).

Neuropathology

No data.

Biological Effect

Cell-surface expression of the S116C variant was similar to that of wild-type TREM2 heterologously expressed in HEK293 cells (Varnum et al., 2017).

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References

Paper Citations

1. Borroni B, Ferrari F, Galimberti D, Nacmias B, Barone C, Bagnoli S, Fenoglio C, Piaceri I, Archetti S, Bonvicini C, Gennarelli M, Turla M, Scarpini E, Sorbi S, Padovani A. Heterozygous TREM2 mutations in frontotemporal dementia. Neurobiol Aging. 2014 Apr;35(4):934.e7-10. Epub 2013 Oct 16 PubMed.
2. Varnum MM, Clayton KA, Yoshii-Kitahara A, Yonemoto G, Koro L, Ikezu S, Ikezu T. A split-luciferase complementation, real-time reporting assay enables monitoring of the disease-associated transmembrane protein TREM2 in live cells. J Biol Chem. 2017 Jun 23;292(25):10651-10663. Epub 2017 May 10 PubMed.

Further Reading

No Available Further Reading