Mutations Position Table
SORL1 I552 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| I552S |
Substitution | Substitution | Missense | Coding | Exon 12 | Unknown. |
Unknown. |
Holstege et al., 2022 |
| I552V |
Substitution | Substitution | Missense | Coding | Exon 12 | Unknown. |
Unknown; predicted to be tolerated by SIFT and benign by PolyPhen-2, but deleterious by Mutation Taster. |
Holstege et al., 2017 |
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