Receptor Class Location of mutations Effect of mutated receptor Ref
Thyroid-stimulating hormone receptor (TSHR) Class A N-terminal, ICL3, TM6, ECL2, ECL3 ↑cAMP (Bonomi et al., 2001; Miyai, 2007)
Melanocortin 1 receptor (MC1R) Class A TM2, ICL2 activation of MAPK/ERK, mTor (JA & Bishop, 2005; Turan et al., 2012)
Melanocortin 2 receptor (MC2R) Class A S74I,R137W, Y254C defective trafficking to cell surface (Flück et al., 2002)
Lutropin receptor (LHR) Class A TM3, TM6 ↑cAMP (G. Liu et al., 1999)
Smoothened receptor (SMO) Class F N-terminal, TM6, TM7 CA of Hedgehog pathway (Reifenberger et al., 1998; Wang et al., 2014)
Follicle-stimulating hormone receptor (FSHR) Class A ECL2, TM4, TM6 ↑cAMP (Tao, 2008)
Glutamate family of G protein-linked receptors (GRM1–8) Class A N-terminal, ECL1, ECL2, C-terminal activation of the Hedgehog pathway (Elia et al., 2012; Kan et al., 2010)
Muscarinic acetylcholine receptor (mAChR) Class A N-terminal, TM2, TM3, ICL3 activating and inactivating mutations (Kruse et al., 2012)
Lysophosphatidic acid receptor (LPAR) Class A ICL2, ICL4, TM4, TM6, TM7 activating mutations (Raza et al., 2014)
Sphingosine 1-phosphate receptor (S1PR) Class A N-terminal, TM4 inactivating mutations (Obinata et al., 2014)
Abbreviations: ICL- Intracellular loop, ECL- Extracellular loop, TM- Transmembrane α-helix, CA- constitutive activity