Figure 1

Schematic representation of the functional domains of TUBA1A, TUBB2B and TUBB3 tubulin subunits and distribution of mutations associated with foetal cases with malformations of cortical development. Illustrated domains are the N-terminal that contains the guanine nucleotide-binding region, intermediate domain, and C-terminal domains that constitutes the binding surface for MAPs and molecular motors such as kinesins and dyneins. In β-tubulin, they correspond to residues 1–229, 230–371, and 372–450, [36] and in α-tubulin, to residues 1–205, 206–381, 382–451 [37], respectively. Mutations associated with a lissencephaly (classical and with cerebellar hypoplasia) phenotype are indicated in red, with microlissencephaly in green, with polymicrogyria-like cortical dysplasia in pink. For recurrent variations the number of occurrences is indicated in brackets.