Mutations Position Table
SORL1 R1655 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1655Q |
Substitution | Substitution | Missense | Coding | Exon 36 | Unknown. |
Unknown; predicted tolerated in silico. |
Rovelet-Lecrux et al., 2021 |
| R1655Ter (R1655X) |
Substitution | Substitution | Nonsense | Coding | Exon 36 | Unknown. |
This single-nucleotide substitution introduces a premature stop codon. |
Bellenguez et al., 2017 |
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