Mutations Position Table
SORL1 R1866 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1866Q |
Substitution | Substitution | Missense | Coding | Exon 41 | Unknown. |
Unknown; predicted tolerated in silico. |
Campion et al., 2019 |
| R1866W |
Substitution | Substitution | Missense | Coding | Exon 41 | Unknown. |
Unknown; predicted to be deleterious by SIFT and PolyPhen-2, but neutral by Mutation Taster. |
Holstege et al., 2017 |
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