Mutations Position Table
SORL1 C1478 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| C1478S |
Substitution | Substitution | Missense | Coding | Exon 32 | Unknown. |
Unknown; predicted deleterious. |
Rovelet-Lecrux et al., 2021; Andersen et al., 2023 |
| C1478Ter (C1478X) |
Substitution | Substitution | Nonsense | Coding | Exon 32 | Unknown. |
Difference in expression between the wild-type and mutant alleles in blood cells from the carrier of the variant, consistent with nonsense-mediated mRNA decay of the mutant transcript. |
Pottier et al., 2012 |
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