Mutations Position Table
TREM2 R52 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R52C |
FTD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 2 | MRI showed diffuse brain atrophy and ventricular enlargement. |
Unknown. |
Soares et al., 2020 |
| R52H |
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, but activation by phospholipids similar in cells expressing R52H and wild-type TREM2. |
Jin et al., 2014 |
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