Fig. 2

Schematic diagram of NODAL protein structure from conceptual translation of transcript NM_018055 with mapping location (vertical lollipops) of the exact map position of amino acid variants observed in this study. In total, we identified twelve different SNV alleles and indel that are distributed among the NODAL domains. The yellow horizontal rectangle represents the TGF-beta propeptide (amino acid 29-166) and the orange horizontal rectangle represents the mature transforming growth TGF-beta domain (amino acid 247-347). Blue circles denote missense variants, green circles denote splice site variants, red circles denote nonsense variants, and brown circles denote a complex indel variant. Numbers inside the circles refer to the variant frequency in our cohort