Mutations Position Table
SORL1 C1478 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| 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 |
| C1478S |
Substitution | Substitution | Missense | Coding | Exon 32 | Unknown. |
Unknown; predicted deleterious. |
Rovelet-Lecrux et al., 2021; Andersen et al., 2023 |
Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.