Mutations Position Table
TREM2 D39 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| D39G |
AD : Unclear Pathogenicity, FTD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Predicted to be benign by Polyphen-2, tolerated by SIFT, and neutral by SNPs&Go. |
Cuyvers et al., 2014 |
| D39E |
AD : Benign, FTD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 2 | Not applicable. |
Predicted to be possibly damaging by Polyphen-2, but to be tolerated by SIFT and neutral by SNPs&Go. |
Sims et al., 2017 |
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