Mutations Position Table
SORL1 R953 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R953H |
Substitution | Substitution | Missense | Coding | Exon 20 | Unknown. |
Unknown. |
Holstege et al., 2022 |
| R953C |
Substitution | Substitution | Missense | Coding | Exon 20 | Amyloid plaques, neurofibrillary tangles, and TDP-43 inclusions. |
Impairs maturation (glycosylation) and disrupts trafficking of SORL1. |
Fazeli et al., 2023 |
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