Mutations

TREM2 L133L

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity, Frontotemporal Dementia : Unclear Pathogenicity
Clinical Phenotype:
Reference Assembly: GRCh37/hg19
Position: Chr6:41127613 G>T
dbSNP ID: rs144250872
Coding/Non-Coding: Coding
Mutation Type: Point, Silent
Codon Change: CTG to CTT
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 3

Findings

The L133L synonymous variant was found in five of 1216 Alzheimer’s patients, one of 359 FTD patients, and two of 1094 controls in a Belgian study (Cuyvers et al., 2014).

Neuropathology

No data.

Biological Effect

No data.

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. . Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia. Neurobiol Aging. 2014 Mar;35(3):726.e11-9. Epub 2013 Oct 9 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia. Neurobiol Aging. 2014 Mar;35(3):726.e11-9. Epub 2013 Oct 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.