Figure 3.

Mutations in GLDC. Missense mutations are shown above the diagram of the exonic structure of the GLDC gene. Missense mutations with residual activity are shown in green, missense mutations without residual activity are shown in red, and mutations not expressed are shown in yellow. Frameshift mutations (gray) and splice site mutations (orange) are shown below the exonic structure. The length of observed exonic deletions is shown in red and duplications in blue. The frequency of occurrence is provided for recurring mutations.