Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Position: (GRCh38/hg38):Chr6:41161440 C>G
Position: (GRCh37/hg19):Chr6:41129178 C>G
dbSNP ID: rs765933093
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CTG to GTG
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 2

Findings

The L72V variant was found in one of 233 cognitively healthy controls and in none of 210 Alzheimer’s patients in a North American study (Ghani et al., 2016).

Neuropathology

No data.

Biological Effect

The leucine-to-valine substitution at amino acid 72 was predicted by SIFT to be tolerated but by Polyphen2 to be damaging (Ghani et al., 2016).

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References

Paper Citations

1. Ghani M, Sato C, Kakhki EG, Gibbs JR, Traynor B, St George-Hyslop P, Rogaeva E. Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set. Neurobiol Aging. 2016 Jun;42:217.e7-217.e13. Epub 2016 Mar 21 PubMed.

Further Reading

No Available Further Reading