Figure 3

Schematic representation of the LEMD3 and EXT1 protein structure with the protein motifs and domains assigned. (A) The LEMD3 R735X (*) mutation localizes in SMAD binding domain of LEMD3. EXT1 mutation A578T (α) localizes in the glycotransferase domain of EXT1. EXT1 mutation IVS5-2 A > G (p. DEL 429-431) (β) is located in the conserved region of the protein in-between two catalytically active domains. (B) Evolutionary conservation of the mutated amino acid residues in the EXT1. The block of absolute sequence conservation surrounding mutation sites is demarcated with the red bracket.