Mutations Position Table
SORL1 T1483 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| T1483M |
Substitution | Substitution | Missense | Coding | Exon 32 | Unknown. |
Unknown; predicted to be deleterious by SIFT and PolyPhen-2, but neutral by Mutation Taster. |
Verheijen et al., 2016 |
| T1483A |
Substitution | Substitution | Missense | Coding | Exon 32 | Unknown. |
Unknown; predicted to be benign by PolyPhen-2. |
Fernández et al., 2016 |
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