Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis

Figure 2

AlphaFold2 models of wildtype, p.R174, and p.G256S LFNG enzymes with highlighted residues. Wildtype residues are labeled yellow, p.R174 is labeled purple, and p.G256S is labeled turquoise. Important active site residues have been identified with a green color, p.H314 and p.D202 chelate Mn²⁺, p.R129 and p.D201 are responsible for substrate binding, and finally, D290 is the catalytic residue. Both substituted residues are highlighted with a bright pink color at 174 and 256. Position 174 demonstrates canonical arginine positioning overlaid with the histidine substitution. Measurements are taken in angstroms to show relative positioning in a 3D space and important nearby residues.