Figure 1.

Comprehensive Analysis Platform for Pathogenic Mutations in Elements of GPCR Cascades

(A) Evaluation of genetic variants were performed by computational prediction, exhaustive functional assays, and structural analysis in this study. Different steps in G protein signaling cycle investigated in this study: (1) heterotrimeric G protein assembly, (2) basal signaling, (3) agonist-induced G protein activation, (4) signaling to downstream effectors, (5) signal termination, and (6) protein stability.

(B) Schematics of the assay designs.