Mutations Position Table
TREM2 A105 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A105Rfs |
NHD : Pathogenic | Substitution | Substitution | Frame Shift | Coding | Exon 2 | Unknown; imaging showed cerebral atrophy, leukoencephalopathy, thinning of the corpus callosum, basal ganglia calcification. |
Unknown. |
Klünemann et al., 2005 |
| A105T |
FTD : Unclear Pathogenicity | Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Predicted to be neutral by SIFT and by the PolyPhen 2 HumVar algorithm, but to be possibly damaging by PolyPhen2 HumDiv. |
Thelen et al., 2014 |
| A105V |
AD : Benign | Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Unknown. |
Sims et al., 2017; Jin et al., 2015 |
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