Mutations Position Table
SORL1 W932 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| W932C |
Substitution | Substitution | Missense | Coding | Exon 20 | Unknown. |
Unknown. |
Holstege et al., 2022 |
| W932Ter (W932X) |
Substitution | Substitution | Nonsense | Coding | Exon 20 | Schramm et al., 2022 |
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