Landscapes of missense variant impact for human superoxide dismutase 1
Anna Axakova, M. Ding, Atina G. Coté, Radha Subramaniam, Vignesh Senguttuvan, Haotian Zhang, Jochen Weile, Samuel V. Douville, Marinella Gebbia, Ammar Al‐Chalabi, Alexander Wahl, Jason Reuter, Jessica A. Hurt, Adele A. Mitchell, Stephanie Fradette, , Frederick P. Roth
The paper measures the functional impact of over two thousand SOD1 missense variants using saturation mutagenesis and cell-based assays, reclassifying 41% of previously uncertain variants as pathogenic.
The American Journal of Human Genetics · Sep 16, 2025Peer-reviewedGenetics