Mutations Position Table
TREM2 R62 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| R62C |
AD : Unclear Pathogenicity | 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. |
rs201258314 |
Coding | Exon 2 | Point, Missense CGT to TGT |
0 | Pottier et al., 2013; Song et al., 2017 |
|
| R62H |
Alzheimer's Disease | AD : Risk Modifier | 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. |
rs143332484 |
Coding | Exon 2 | Point, Missense CGT to CAT |
0 | Jin et al., 2014; Sims et al., 2017 |
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