The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants

Figure 4

(a) MC2R receptor has 297 amino acids and consists of 7 transmembrane domains from positions 24–49 (TM helix 1, 26–52), 59–79 (TM helix 2, 59–85), 105–126 (TM helix 3, 103–133), 148–168 (TM helix 4, 145–165), 181–199 (TM helix 5, 170–199), 218–244 (TM helix 6, 212–242), and 257–278 (TM helix 7, 255–280). This receptor consists of four cytoplasmic domains expanded in positions 50–58, 127–147, 200–217, and 279–297 and four extracellular domains 1–23, 80–104, 169–180, and 245–256. (b) MRAP consists of 172 amino acids, and positions 38–58 are located in the transmembrane domain. Reported variants of each domain and region are shown.

(a)

(b)