Fig. 6

The predicted effect of TSPAN12 variants in 3D protein structures. A1 The structure of wild type TPSAN12, the missing amino acids F157-E204 due to mutation c.612+1G>A is shown in orange. A2 The structure of TPSAN12 with mutation c.612+1G>A. B1 The structure of wild type TPSAN12, the changed amino acids L23–L305 due to mutation c.149+2T>C is shown in orange. B2 The structure of TPSAN12 with mutation c.149+2T>C. C1 The structure of wild type TPSAN12, the missing amino acids Y96-M120 due to mutation c.360G>A is shown in orange. C2 The structure of TPSAN12 with mutation c.360G>A. D1 The structure of wild type TPSAN12, the missing amino acids E118–L305 due to mutation c.352G>T is shown in orange. D2 The structure of TPSAN12 with mutation c.352G>T. E1 The structure of wild type TPSAN12, the missing amino acids W150–L305 due to mutation c.449G>A is shown in orange. E2 The structure of TPSAN12 with mutation c.449G>A. F1 Superposition before and after mutation, with green representing the wild type and blue representing the mutant type p.G78R. F2 The structure of GKY-78 and its surrounding residues. F3 The structure of the mutation ARG-78 and its surrounding residues. G1 Superposition before and after mutation, with green representing the wild type and blue representing the mutant type p.M120I. G2 The structure of MET-120 and its surrounding residues. G3 The structure of the mutation ILE-120 and its surrounding residues. H1 Superposition before and after mutation, with green representing the wild type and blue representing the mutant type p.R134S. H2 The structure of ARG-134 and its surrounding residues. H3 The structure of the mutation SER-134 and its surrounding residues. I1 Superposition before and after mutation, with green representing the wild type and blue representing the mutant type p.T49M. I2 The structure of THR-49 and its surrounding residues. I3 The structure of the mutation MET-49 and its surrounding residues. J1 Superposition before and after mutation, with green representing the wild type and blue representing the mutant type p.Y96C. J2 The structure of TYR-96 and its surrounding residues. J3 The structure of the mutation CYS-96 and its surrounding residues