Mutations Position Table
SORL1 G738 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| G738R (G>A) |
Substitution | Substitution | Missense | Coding | Exon 16 | Unknown. |
Unknown; predicted deleterious in silico. |
Campion et al., 2019 |
| G738R (G>C) |
Substitution | Substitution | Missense | Coding | Exon 16 | Unknown. |
Unknown; predicted deleterious in silico. |
Campion et al., 2019 |
| G738Ter |
Substitution | Substitution | Nonsense | Coding | Exon 16 | Unknown. |
Introduces a premature stop codon. |
Holstege et al., 2022 |
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