Mutations Position Table
SORL1 R1729 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1729H |
Substitution | Substitution | Missense | Coding | Exon 38 | Unknown. |
Unknown; predicted to be deleterious by SIFT, disease-causing by Mutation Taster, and probably damaging by PolyPhen-2. |
Holstege et al., 2017 |
| R1729G |
Substitution | Substitution | Missense | Coding | Exon 38 | Unknown. |
Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. |
Bellenguez et al., 2017 |
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