Figure 1.Locations ofCASRgene activating mutations found in patients with ADH. The schema outlines the relationship betweenCASRgene exons (II to VII) and the portions of the protein that they encode. Exons II to VI and the beginning of exon VII encode the ECD of ~610 amino acids, exon VII encodes the TMD of ~250 amino acids including membrane-spanning helices TM1-TM7 (indicated by the shaded boxes), ECL1 to ECL3, ICL1 to ICL3, and the ICD of ~200 amino acids. Recurrent mutations are highlighted. (Abbreviations: ECD, extracellular domain; TMD, transmembrane domain; TM, membrane-spanning helix; ECL, extracellular loop; ICL, intracellular loop; ICD, intracellular domain).