Mutations Position Table
TREM2 R47 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R47C |
AD : Unclear Pathogenicity, FTD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 2 | Unknown, but MRI showed symmetric frontal and temporal lobe atrophy in homozygous carrier. |
Normal protein maturation, decreased total and cell-surface expression in HEK293 cells. |
Sirkis et al., 2016; Ng et al., 2018 |
| R47H |
AD : Risk Modifier, FTD : Possible Risk Modifier, PD : Possible Risk Modifier, ALS : Possible Risk Modifier | Substitution | Substitution | Missense | Coding | Exon 2 | AD patients heterozygous for the R47H variant: generally typical AD pathology, but subtle differences compared to non-carriers, including decreased microglial coverage of amyloid plaques and accumulation of phagosomes in microglia. |
Decreased ligand binding to TREM2 and impaired TREM2-mediated activation. |
Guerreiro et al., 2013; Jonsson et al., 2013 |
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