Mutations Position Table
SORL1 G398 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| G398C |
Substitution | Substitution | Missense | Coding | Exon 8 | Unknown. |
Unknown, but predicted to be deleterious. |
Holstege et al., 2022; Andersen et al., 2023 |
| G398S |
Substitution | Substitution | Missense | Coding | Exon 8 | Unknown. |
Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. |
Campion et al., 2019 |
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