Mutations Position Table
TREM2 R62 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R62C |
AD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Lower cell-surface expression than wild-type TREM2 when co-expressed with its adaptor protein DAP12 in a reporter cell line; activation by lipid ligands reduced in cells expressing R62C compared with cells expressing wild-type TREM2. |
Pottier et al., 2013; Song et al., 2017 |
| R62H |
AD : Risk Modifier | Substitution | Substitution | Missense | Coding | Exon 2 | AD patients heterozygous for the R62H variant: decreased microglial coverage of amyloid plaques and increased accumulation of phagosomes in microglia, compared to non-carriers. |
Decreased ligand binding to TREM2 and impaired TREM2-mediated activation. |
Jin et al., 2014; Sims et al., 2017 |
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