Fig. 1.

Protein structures of G6C and the mutations found in this study. The G6PC protein contains nine trans-membrane domains and ten topological domains. There are two binding sites on residue 83 and 170 (yellow arrowhead) and two active sites on residues 119 and 176 (red arrowhead). The two mutations, shown by the black arrows, were c.190G>T, resulting in p.V64L and c.508C>T, encoding p.R170X. The gray arrowheads indicate previous mutations reported in GSD1a patients complicated with gout