Mutations Position Table
SORL1 V583 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| V583V |
Substitution | Substitution | Nonsense | Coding | Exon 13 | Unknown. |
Unknown. |
Holstege et al., 2017 |
| V583L |
Substitution | Substitution | Missense | Coding | Exon 13 | Unknown. |
Unknown, but substitution of the hydrophobic valine residue with a hydrophobic leucine is predicted to be tolerated. |
Fernández et al., 2016; Andersen et al., 2023 |
| V583M |
Substitution | Substitution | Missense | Coding | Exon 13 | Unknown. |
Unknown, but substitution of the hydrophobic valine residue with a hydrophobic methionine is predicted to be tolerated. |
Holstege et al., 2022; Andersen et al., 2023 |
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