Mutations Position Table
SORL1 R1172 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1172H |
Substitution | Substitution | Missense | Coding | Exon 25 | Unknown. |
Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. |
Campion et al., 2019 |
| R1172C |
Substitution | Substitution | Missense | Coding | Exon 25 | Unknown. |
Unknown; predicted deleterious. |
Campion et al., 2019; Andersen et al., 2023 |
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