Mutations

TREM2 S16F

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41161607 C>T
Position: (GRCh37/hg19):Chr6:41129345 C>T
dbSNP ID: rs777808487
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 S16F 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).

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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