Mutations Position Table
SORL1 R1799 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1799Q |
Substitution | Substitution | Missense | Coding | Exon 40 | Unknown. |
Unknown; predicted tolerated in silico. |
Geut et al., 2019 |
| R1799Ter (R1799X) |
Substitution | Substitution | Nonsense | Coding | Exon 40 | Unknown. |
Introduces a premature stop codon. |
Schramm et al., 2022 |
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