Mutations Position Table
SORL1 R67 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R67S (G>C) |
Substitution | Substitution | Missense | Coding | Exon 1 | Unknown. |
Unknown; predicted tolerated in silico. |
Campion et al., 2019 |
| R67S (G>T) |
Substitution | Substitution | Missense | Coding | Exon 1 | Unknown. |
Unknown; predicted tolerated in silico. |
Campion et al., 2019 |
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