Mutations Position Table
SORL1 G1536 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| G1536D |
Substitution | Substitution | Missense | Coding | Exon 33 | Unknown. |
Unknown; predicted deleterious. |
Campion et al., 2019; Andersen et al., 2023 |
| G1536S |
Substitution | Substitution | Missense | Coding | Exon 33 | Unknown. |
Unknown; predicted deleterious. |
Vardarajan et al., 2015; Andersen et al., 2023 |
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