Mutations Position Table
SORL1 W804 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| W804C |
Substitution | Substitution | Missense | Coding | Exon 17 | Unknown. |
Unknown; predicted deleterious. |
Holstege et al., 2022; Andersen et al., 2023 |
| W804Ter (W804X) |
Substitution | Substitution | Nonsense | Coding | Exon 17 | Introduces a premature stop codon. |
Schramm et al., 2022 |
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