Mutations

TREM2 E202D

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype:
Reference Assembly: GRCh37 (105)
Position: Chr6:41126395 G>T
dbSNP ID: rs530314472
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GAG to GAT
Reference Isoform: TREM2 Isoform 2 (219 aa)
Genomic Region: Exon 4 of transcript variant 2

Findings

In two cohorts of Caucasians, the E202 variant was found in one of 2077 Alzheimer’s patients and none of 1642 controls (p = 1) (Jin et al., 2014) and in none of 31 AD patients and one of 245 controls (Sirkis et al., 2016). In a study of African-Americans, the variant was found in none of 202 AD patients and one of 136 controls (p = 0.4) (Jin et al., 2015).

Neuropathology

No data.

Biological Effect

No data.

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. . Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression. Acta Neuropathol Commun. 2016 Sep 2;4(1):98. PubMed.
  3. . TREM2 is associated with increased risk for Alzheimer's disease in African Americans. Mol Neurodegener. 2015 Apr 10;10:19. 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.
  2. . TREM2 is associated with increased risk for Alzheimer's disease in African Americans. Mol Neurodegener. 2015 Apr 10;10:19. PubMed.

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