Mutations Position Table
SORL1 A69 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| A69V |
Substitution | Substitution | Missense | Coding | Exon 1 | Unknown. |
Unknown. |
Holstege et al., 2022 |
| A69Gfs |
Insertion | Insertion | | Coding | Exon 1 | Unknown. |
Unknown. |
Holstege et al., 2022 |
| A69Rfs |
Deletion | Deletion | | Coding | Exon 1 | Unknown. |
Unknown. |
Holstege et al., 2022 |
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