Mutations

TREM2 S31F

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Reference Assembly: GRCh37/hg19
Position: Chr6:41129300 C>T
dbSNP ID: rs746216516
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: TCC to TTC
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The S31F 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 S31F variant exhibited normal maturation but decreased total and cell-surface expression when heterologously expressed in HEK293 cells (Sirkis et al., 2016).

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. . 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. . 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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