Mutations

TREM2 V27M

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41161575 G>A
Position: (GRCh37/hg19):Chr6:41129313 G>A
dbSNP ID: rs768745050
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GTG to ATG
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The V27M variant was found in one Alzheimer’s patient in a Caucasian cohort from the Alzheimer’s Disease Sequencing Project (2927 AD, 2633 cognitively healthy controls) (Sirkis et al., 2016).

Neuropathology

No data.

Biological Effect

The V27M variant exhibited normal protein maturation when heterologously expressed in HEK293 cells (Sirkis et al., 2016).

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. Sirkis DW, Bonham LW, Aparicio RE, Geier EG, Ramos EM, Wang Q, Karydas A, Miller ZA, Miller BL, Coppola G, Yokoyama JS. Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression. Acta Neuropathol Commun. 2016 Sep 2;4(1):98. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Sirkis DW, Bonham LW, Aparicio RE, Geier EG, Ramos EM, Wang Q, Karydas A, Miller ZA, Miller BL, Coppola G, Yokoyama JS. Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression. Acta Neuropathol Commun. 2016 Sep 2;4(1):98. PubMed.

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