Mutations Position Table
TREM2 R136 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R136W |
AD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 3 | Unknown. |
Normal protein maturation, decreased total and cell-surface expression in HEK 293 cells; when stimulated by phospholipids, reporter cells expressing the R136W variant responded similarly to cells expressing wild-type TREM2. |
Jin et al., 2014 |
| R136Q |
AD : Benign, FTD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 3 | Unknown. |
Normal protein maturation, slightly reduced cell-surface expression in HEK293 cells. |
Sims et al., 2017 |
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