Mutations Position Table
SORL1 S1979 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| S1979Ifs |
Deletion | Deletion | | Coding | Exon 44 | Unknown. |
This two-nucleotide deletion results in a frame shift. |
Holstege et al., 2022 |
| S1979N |
Substitution | Substitution | Missense | Coding | Exon 44 | Unknown. |
Unknown; predicted to be benign by PolyPhen-2. |
Fernández et al., 2016 |
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