BiochemistrybioRxiv
In silico Analysis of Nonsynonymous Genomic Variants within CCM2 Gene Reaffirm the Existence of Dual Cores within Typical PTB Domain
A. Padarti, O. Belkin, J. Abou-Fadel, J. Zhang
The paper analyzes nsSNPs in the CCM2 PTB domain to assess their structural impact, finding that pathogenic variants affect only one of the dual cores, supporting their independent functionality.
DOI 10.1016/j.bbrep.2022.101218