Mutations Position Table
SORL1 R279 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R279L |
Substitution | Substitution | Missense | Coding | Exon 6 | Unknown. |
Unknown. |
|
| R279Ter (R279X) |
Substitution | Substitution | Nonsense | Coding | Exon 6 | Autopsy-confirmed Alzheimer’s disease (Braak stage 6) in one carrier. |
Introduces a premature stop codon; predicted to be disease-causing by Mutation Taster. |
Raghavan et al., 2018 |
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