An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family

Figure 2

Reported mutations and its location in the KISS1 receptor identified in nCHH patients: colored in orange for previously described mutations and in green for our cases. Residues with asterisk indicate nonsense mutations, and residues without asterisk indicate missense mutations. ED: extracellular domain; TD: transmembrane domain; ID: intracellular domain.