Mutations Position Table
SORL1 R729 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R729Q |
Substitution | Substitution | Missense | Coding | Exon 16 | Unknown. |
Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. |
Holstege et al., 2017 |
| R729W |
Substitution | Substitution | Missense | Coding | Exon 16 | Unknown. |
Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells. |
Nicolas et al., 2016 |
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