FIG. 1.

Mutations identified in MC4R in the screening of 5,620 subjects. A: Localization of the identified mutation according to MC4R conformation. The transmembrane domains are indicated as tm1–7, cytoplasmic loops c1–3, and extracellular loops e1–3. Mutations identified are listed according to the domain in which they are located. Underlined mutations are new. B: Functional characterization of the new nonsynonymous mutations: cAMP EIA. The graphs indicate the response of mutant and wild-type MC4R to the addition of a logarithmic increase of α-MSH. Each point represents the mean ± SE of at least four independent experiments performed in duplicate.