Mutations Position Table
TREM2 A130 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A130S |
AD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Normal protein maturation when heterologously expressed in HEK293 cells. |
Sirkis et al., 2016 |
| A130V |
AD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Predicted by SIFT to be damaging. |
Jiao et al., 2014 |
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