Figure 2
Comparative analysis of predicted tertiary structures in wild-type and mutant protein sequences near mutation sites. This figure presents structural superposition analyses to illustrate the alterations in protein structure resulting from the variants found in Proband I, Proband III, and Proband VII. Significant changes in the tertiary structure of the proteins due to the mutations were found in Proband I and Proband VII. In contrast, the predicted tertiary structure of the protein sequences flanking the variants from Proband III showed no discernible differences when compared to the wild-type structure, indicating that these particular mutations may not significantly alter the protein’s tertiary conformation.