Mutations Position Table
SORL1 R1084 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1084H |
Substitution | Substitution | Missense | Coding | Exon 23 | Unknown. |
Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2. |
Verheijen et al., 2016 |
| R1084C |
Substitution | Substitution | Missense | Coding | Exon 23 | Unknown. |
Predicted deleterious. Structural modeling suggests a change in secondary structure and misfolding of the protein. |
El Bitar et al., 2019 |
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