Mutations

TREM2 L133L

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity, Frontotemporal Dementia : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41159875 G>T
Position: (GRCh37/hg19):Chr6:41127613 G>T
dbSNP ID: rs144250872
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: 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

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References

Paper Citations

  1. Cuyvers E, Bettens K, Philtjens S, Van Langenhove T, Gijselinck I, van der Zee J, Engelborghs S, Vandenbulcke M, Van Dongen J, Geerts N, Maes G, Mattheijssens M, Peeters K, Cras P, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Cruts M, Sleegers K, BELNEU consortium. 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. Cuyvers E, Bettens K, Philtjens S, Van Langenhove T, Gijselinck I, van der Zee J, Engelborghs S, Vandenbulcke M, Van Dongen J, Geerts N, Maes G, Mattheijssens M, Peeters K, Cras P, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Cruts M, Sleegers K, BELNEU consortium. 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.

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