Mutations

TREM2 A130S

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41161266 G>T
Position: (GRCh37/hg19):Chr6:41129004 G>T
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GCA to TCA
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The A130S mutation was found in one of 245 cognitively healthy controls, but in none of 31 Alzheimer’s patients in a discovery series of Caucasian subjects (Sirkis et al., 2016).

Neuropathology

No data.

Biological Effect

THE A130S 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.

Other mutations at this position

View Table

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