Figure 3.

Colocalization of constitutively activating and inactivating mutations within the ECLs of the glycoprotein hormone receptors. Sequence alignment of the 3 human ECLs of the glycoprotein hormone receptors shows colocalization of positions of CAMs (gray background) and inactivating mutations (boxed) at the TSHR. In support of the assumed necessity of this colocalization, we identified new signaling-sensitive positions in the ECL1 (dashed box) in addition to previously published mutations: a new partially inactive mutation (Q489A) for TSH induced signaling as well as a CAM (T490A).