Mutations Position Table
SORL1 R287 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R287Q |
Substitution | Substitution | Missense | Coding | Exon 6 | Unkonwn. |
Unkonwn. |
|
| R287W |
Substitution | Substitution | Missense | Coding | Exon 6 | Unkonwn. |
Unkonwn. |
Holstege et al., 2022 |
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