Mutations Position Table
SORL1 R1490 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1490H |
Substitution | Substitution | Missense | Coding | Exon 32 | Unknown. |
Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2. |
Sassi et al., 2016 |
| R1490L |
Coding | Unknown. |
Unknown. |
Holstege et al., 2022 | |||
| R1490C |
Substitution | Substitution | Missense | Coding | Exon 32 | Unknown. |
Unknown; predicted deleterious. |
Verheijen et al., 2016; Andersen et al., 2023 |
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