Mutations Position Table
SORL1 R1041 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1041S |
Substitution | Substitution | Missense | Coding | Exon 22 | Unknown. |
Unknown; predicted tolerated in silico. |
Vardarajan et al., 2015 |
| R1041M |
Substitution | Substitution | Missense | Coding | Exon 22 | Unknown. |
Unknown. |
Holstege et al., 2022 |
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