Figure 1

Missense mutations and location on the P-protein crystal structure. For each exon in GLDC, the percentage of amino acids identified as pathogenic missense mutation is shown (a). On the modeled crystal structure, the amino acids of the carboxy-terminal part of the protein are shown in dark blue and the amino acids of the amino-terminal part of the protein are shown in gray, except for the amino acids of exon 8, which are shown in red. The amino acids in exon 2 are shown in light blue. The active site pyridoxal-phosphate is shown in black (b).