Mutations Position Table
SORL1 S114 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| S114N |
Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Unknown. |
|
| S114R |
Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells. |
Rovelet-Lecrux et al., 2021 |
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