Mutations Position Table
SORL1 D850 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| D850V |
Substitution | Substitution | Missense | Coding | Exon 18 | Unknown. |
Unknown; predicted deleterious. |
Holstege et al., 2022; Andersen et al., 2023 |
| D850Qfs |
Deletion | Deletion | | Coding | Exon 18 | Unknown. |
This four-nucleotide deletion results in a frame shift. |
Campion et al., 2019 |
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