Mutations Position Table
SORL1 W31 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| W31Ter (TGG>TGA) |
Substitution | Substitution | Nonsense | Coding | Exon 1 | Unknown. |
Introduces a premature stop codon. |
Holstege et al., 2022 |
| W31Ter (TGG>TAG) |
Substitution | Substitution | Nonsense | Coding | Exon 1 | Unknown. |
Introduces a premature stop codon. |
Nicolas et al., 2018 |
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