Mutations Position Table
SORL1 R904 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R904Q |
Substitution | Substitution | Missense | Coding | Exon 20 | Unknown. |
Unknown; predicted deleterious. |
Campion et al., 2019; Andersen et al., 2023 |
| R904W |
Substitution | Substitution | Missense | Coding | Exon 20 | Amyloid plaques, neurofibrillary tangles, limited CAA. |
Unknown; predicted deleterious in silico. |
Tejada Moreno et al., 2022 |
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