Mutations Position Table
SORL1 R814 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R814H |
Substitution | Substitution | Missense | Coding | Exon 18 | Unknown. |
Unknown; predicted deleterious. |
Fernández et al., 2016; Andersen et al., 2023 |
| R814C |
Substitution | Substitution | Missense | Coding | Exon 18 | Unknown. |
Unknown; predicted deleterious. |
Campion et al., 2019; Andersen et al., 2023 |
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