Mutations Position Table
SORL1 P1654 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| P1654L |
Substitution | Substitution | Missense | Coding | Exon 36 | Unknown. |
Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells. |
Nicolas et al., 2016; Andersen et al., 2023 |
| P1654S |
Substitution | Substitution | Missense | Coding | Exon 36 | Unknown. |
Unknown; predicted deleterious in silico. |
Bellenguez et al., 2017; Andersen et al., 2023 |
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