Mutations

TREM2 H43Y

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Reference Assembly: GRCh37/hg19
Position: 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

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Paper Citations

  1. . 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. . TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. J Alzheimers Dis. 2013;35(1):45-9. PubMed.

Alzpedia

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.