Mutations Position Table
SORL1 R679 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R679Q |
Substitution | Substitution | Missense | Coding | Exon 14 | Unknown. |
Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. |
Holstege et al., 2017 |
| R679W |
Substitution | Substitution | Missense | Coding | Exon 14 | Unknown. |
Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. |
Fernández et al., 2016 |
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