Mutations

TREM2 W200C

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41158663 G>C
Position: (GRCh37/hg19):Chr6:41126401 G>C
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: TGG to TGC
Reference Isoform: TREM2 Isoform 2 (219 aa)
Genomic Region: Exon 4 of transcript variant 2

Findings

The W200C variant was found in a study of Han Chinese, where it did not associate with Alzheimer’s disease: none of 988 AD patients and one of 1354 controls carried the variant (p = 1) (Jiang et al., 2016).

Neuropathology

No data.

Biological Effect

The tryptophan-to-cysteine substitution was predicted to be probably damaging by Polyphen2 (Jiang et al., 2016).

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. Jiang T, Tan L, Chen Q, Tan MS, Zhou JS, Zhu XC, Lu H, Wang HF, Zhang YD, Yu JT. A rare coding variant in TREM2 increases risk for Alzheimer's disease in Han Chinese. Neurobiol Aging. 2016 Jun;42:217.e1-3. Epub 2016 Mar 3 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Jiang T, Tan L, Chen Q, Tan MS, Zhou JS, Zhu XC, Lu H, Wang HF, Zhang YD, Yu JT. A rare coding variant in TREM2 increases risk for Alzheimer's disease in Han Chinese. Neurobiol Aging. 2016 Jun;42:217.e1-3. Epub 2016 Mar 3 PubMed.

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