Mutations Position Table
SORL1 C1860 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| C1860Ter |
Substitution | Substitution | Nonsense | Coding | Exon 41 | Unknown. |
Introduces a premature stop codon. |
Holstege et al., 2022 |
| C1860Yfs |
Deletion | Deletion | | Coding | Exon 41 | Unknown. |
This two-nucleotide deletion results in a frame shift. |
Holstege et al., 2022 |
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