Mutations Position Table
SORL1 R1442 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1442G |
Substitution | Substitution | Missense | Coding | Exon 31 | Unknown. |
Unknown. |
Holstege et al., 2022 |
| R1442Ter (R1442X) |
Substitution | Substitution | Nonsense | Coding | Exon 31 | Unknown. |
This protein-truncating variant was predicted to be disease-causing by Mutation Taster. |
Verheijen et al., 2016 |
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