Mutations Position Table
SORL1 R490 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R490Q |
Substitution | Substitution | Missense | Coding | Exon 10 | Unknown. |
Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. |
Fernández et al., 2016 |
| R490W |
Substitution | Substitution | Missense | Coding | Exon 10 | Unknown. |
Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. |
Bellenguez et al., 2017 |
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.