Mutations Position Table
SORL1 S1541 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| S1541L |
Substitution | Substitution | Missense | Coding | Exon 33 | Unknown. |
Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. |
Campion et al., 2019 |
| S1541Wfs |
Deletion | Deletion | | Coding | Exon 33 | Unknown. |
This single-nucleotide deletion results in a frame shift. |
Holstege et al., 2022 |
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