Figure 5.

Crystallographic modeling of TRHR showing the positions (red spheres) of the two previously described mutations associated with central hypothyroidism: R17X truncating the protein in the extracaellular domain and an in-frame deletion of 3 amino acids (Ser115-Thr117) plus a missense change (Ala118 for Thr118; p.S115-T117del+T118) located at the cytoplasmic end of the third transmembrane domain of the receptor The TRHR structural model was generated by homology modeling using the PHYRE server and Pymol. The N-terminal start codon and C-terminal end codon are highlighted in green.