Comprehensive Mapping of SGCA Variant Effects Reveals Domain-Specific Constraints Relevant to Sarcoglycanopathies
Shushu Huang, Kenneth K.H. Ng, Yanyu Lu, Zhiying Xie, Chaoping Hu, Bochen Zhu, Wenhua Zhu, Angela Lek, Yujiao Yang, Semin Kim, Kaiyue Ma, Monkol Lek
The paper systematically evaluates SGCA variant effects using saturation mutagenesis to distinguish functional and non-functional variants, revealing domain-specific constraints in sarcoglycanopathies.
bioRxiv · Jul 26, 2026 · PreprintGenetics