Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis

This study identified 19 deleterious nsSNPs in the CTNS gene that impair cystinosin stability and function. These findings highlight the structural and functional importance of key residues, such as G308, D305, and F142, which play critical roles in maintaining the active conformation and transport capacity of cystinosin. These insights provide a foundation for future experimental validation and the development of targeted therapeutic strategies to mitigate the effects of pathogenic mutations in cystinosis.