TDM-TSHR mutations-ch16a-fig4

Legend to figure 4: Familial gestational hyperthyroidism secondary to mutation of the TSHR gene. Upper panel displays the pedigree, with the two ladies affected, together with a “snake plot “of the TSHR, with the mutation indicated. Lower right panel illustrates the increased sensitivity of the K183R mutant TSHR vis-à-vis hCG. Binding of TSH, or hCG to the ectodomain of the TSHR, according to models based on crystallographic data from (110,82) is visualized in figure 3.