Mutations Position Table
SORL1 G1440 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| G1440V |
Substitution | Substitution | Missense | Coding | Exon 31 | Unknown. |
Unknown. |
Holstege et al., 2022; Andersen et al., 2023 |
| G1440R (G>A) |
Substitution | Substitution | Missense | Coding | Exon 31 | Unknown. |
Unknown; predicted deleterious. |
Holstege et al., 2017; Andersen et al., 2023 |
| G1440R (G>C) |
Substitution | Substitution | Missense | Coding | Exon 31 | Unknown. |
Unknown; predicted deleterious. |
Verheijen et al., 2016; Andersen et al., 2023 |
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