Mutations Position Table
SORL1 D1545 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| D1545E |
Substitution | Substitution | Missense | Coding | Exon 33 | Unknown. |
Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells. |
Bellenguez et al., 2017; Andersen et al., 2023 |
| D1545G |
Substitution | Substitution | Missense | Coding | Exon 33 | Unknown. |
Unknown; predicted deleterious. |
Holstege et al., 2022; Andersen et al., 2023 |
| D1545N |
Substitution | Substitution | Missense | Coding | Exon 33 | Unknown. |
Unknown; predicted deleterious. |
Rovelet-Lecrux et al., 2021; Andersen et al., 2023 |
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