Figure 6.
Summary of Sox10 mutations detected in mouse and human HSCR. The effect of the Sox10Dom mutation and multiple independent human mutations [this study (*); Pingault et al. 1998] on SOX10 are diagrammed beneath the protein domains. The category of mutation within the Sox10 coding sequence is indicated below. Note that both 929insGDom and 1076delGA produce frameshifts that introduce heterologous amino acid sequence, 99 and 37 residues, respectively, before terminating the protein at the indicated positions on the diagram.
