Mutations Position Table
SORL1 R416 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R416L |
Substitution | Substitution | Missense | Coding | Exon 9 | Unknown. |
Unknown. |
Holstege et al., 2022 |
| R416Q |
Substitution | Substitution | Missense | Coding | Exon 9 | Unknown. |
Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. |
Sassi et al., 2016 |
| R416G |
Substitution | Substitution | Missense | Coding | Exon 9 | Unknown. |
Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. |
Fernández et al., 2016 |
| R416Ter (R416X) |
Substitution | Substitution | Nonsense | Coding | Exon 9 | Unknown. |
Introduces a premature stop codon; predicted to be disease-causing by Mutation Taster. |
Verheijen et al., 2016 |
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