Important interactions of these residues with motor proteins, MAPs, and chaperonins have been demonstrated by protein structure and animal models explaining their role in pathophysiology of tubulinopathies [5, 27, 28] This is in line with the recurrent variant p.(Arg402His) identified in a fetus with severe brain malformations and the novel variant p.(Arg422Ser) found in a living individual of our cohort. This evidence concerns the gene IMMT and tubulinopathy.