Mutations Position Table
SORL1 Y1816 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| Y1816Y |
Substitution | Substitution | Silent | Coding | Exon 41 | Unknown. |
Unknown. |
Holstege et al., 2017 |
| Y1816C |
Substitution | Substitution | Missense | Coding | Exon 41 | Unknown. |
Impairs SORL1 maturation (glycosylation), dimerization, co-localization with retromer, and trafficking to the plasma membrane, resulting in endosomal swelling and decreased levels of soluble SORL1. |
Verheijen et al., 2016; Jensen et al., 2023 |
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