Fig. 2

Whole exome sequence results showed heterozygous variants c.2105C>T (p.T702M) and c.1330A>T (p.I444F) in the AHI1 gene. The c.2105C>T variant is from the mother, and the c.1330A>T variant is from the father (A). The 3D structural prediction showed that the T702M mutation changes the structure of Jouberin protein from β-sheet to D-loop, while the I444F mutation alters the structure from α-helix to D-loop (B). Both of the mutations alter the conformation of this scaffolding protein and affect the protein function