Mutations Position Table
SORL1 R1124 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1124C |
Substitution | Substitution | Missense | Coding | Exon 24 | Unknown. |
Unknown; predicted deleterious. |
Campion et al., 2019; Andersen et al., 2023 |
| R1124S |
Substitution | Substitution | Missense | Coding | Exon 24 | Unknown. |
Unknown; predicted deleterious in silico. |
Campion et al., 2019 |
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.