Mutations Position Table
SORL1 R480 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R480P |
Substitution | Substitution | Missense | Coding | Exon 10 | Unknown. |
Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. |
Sassi et al., 2016 |
| R480C |
Substitution | Substitution | Missense | Coding | Exon 10 | Unknown. |
Unknown; predicted to be deleterious. |
Verheijen et al., 2016; Andersen et al., 2023 |
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