Fig. 5

GNAI3 variant caused auriculocondylar syndrome (ACS) in case 50. A The pedigree map of case 50. B–D Sanger sequencing showed that the proband had a de novo variant. E, F The 3D molecular structure of Gnαi3. The magnified views of the wild-type Gly40 (E) and mutant Val40 (F) are shown respectively. The H-bonds are shown as green dashed lines, and H-bond distances (Å) are shown in red numbers G Gnαi3 domains are depicted in blue: boxes G1–G5. The variant reported here is in red, and previously described variants are in black. H Protein alignment showing conservation of residues GNAI3 p.Gly40Val across multiple species. This mutation occurred at evolutionarily conserved amino acid positions