Structure of OCNDS-related CK2alpha variant F197I

The Okur-Chung neurodevelopment syndrome is a rare disease caused by mutations of the CSNK2A1 gene, which encodes for the catalytic subunit of protein kinase CK2. in this study, we analyzed the most common variants of the Okur-Chung neurodevelopment syndrome on a biophysical and structural level. Changes on co-substrate an substrate binding and decreased thermal stability were found to be the most common effects of those variants.