Mutations Position Table
SORL1 R2163 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R2163Q |
Substitution | Substitution | Missense | Coding | Exon 47 | Unknown. |
Unknown; predicted to be probably damaging by PolyPhen-2. |
Fernández et al., 2016 |
| R2164Gfs |
Deletion | Deletion | | Coding | Exon 47 | Unknown. |
This single-nucleotide deletion results in a frameshift leading to a premature stop codon. |
Vardarajan et al., 2015 |
| R2163W |
Substitution | Substitution | Missense | Coding | Exon 47 | Unknown. |
Unknown. |
Holstege et al., 2022 |
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