Mutations

TREM2 H43Y

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41161527 C>T
Position: (GRCh37/hg19):Chr6:41129265 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CAC to TAC
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The H43Y variant was found in one of 783 cognitively healthy controls and in none of 726 early-onset AD patients in a French study (Pottier et al., 2013).

Neuropathology

No data.

Biological Effect

The H43Y variant is predicted by PolyPhen2 to be benign (Pottier et al., 2013).

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. Pottier C, Wallon D, Rousseau S, Rovelet-Lecrux A, Richard AC, Rollin-Sillaire A, Frebourg T, Campion D, Hannequin D. TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. J Alzheimers Dis. 2013;35(1):45-9. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Pottier C, Wallon D, Rousseau S, Rovelet-Lecrux A, Richard AC, Rollin-Sillaire A, Frebourg T, Campion D, Hannequin D. TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. J Alzheimers Dis. 2013;35(1):45-9. PubMed.

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