Mutations

TREM2 R52H

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype:
Reference Assembly: GRCh37 (105)
Position: Chr6:41129237 G>A
dbSNP ID: rs374851046
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CGC to CAC
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

In a Caucasian cohort, the R52H variant was found in one of 2077 Alzheimer’s patients and none of 1642 cognitively healthy controls (Jin et al., 2014).

Neuropathology

No data.

Biological Effect

The arginine-to-histidine substitution at amino acid 52 was predicted PolyPhen2 to be damaging (Jin et al., 2014). This variant exhibited somewhat lower cell-surface expression than wild-type TREM2 when co-expressed with its adaptor protein DAP12 in a reporter cell line; however activation by purified phospholipids was similar in cells expressing the R52H variant and wild-type TREM2 (Song et al., 2017).

Last Updated: 07 Feb 2018

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References

Paper Citations

  1. . Coding variants in TREM2 increase risk for Alzheimer's disease. Hum Mol Genet. 2014 Nov 1;23(21):5838-46. Epub 2014 Jun 4 PubMed.
  2. . Alzheimer's disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation. Alzheimers Dement. 2017 Apr;13(4):381-387. Epub 2016 Aug 9 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Coding variants in TREM2 increase risk for Alzheimer's disease. Hum Mol Genet. 2014 Nov 1;23(21):5838-46. Epub 2014 Jun 4 PubMed.

Other mutations at this position

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