Mutations Position Table
SORL1 R654 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R654Q |
Substitution | Substitution | Missense | Coding | Exon 14 | Unknown. |
Unknown. |
Holstege et al., 2022 |
| R654W |
Substitution | Substitution | Missense | Coding | Exon 14 | Unknown. |
Impairs maturation (glycosylation) of SORL1 and trafficking to the plasma membrane. |
Nicolas et al., 2016 |
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