Fig. 6.

Panel A maps the 12 MDH2 variants harbored by 12 patients with MDH2 deficiency to the primary protein structure where gray text indicates previously reported variants, black text indicates novel variants in this patient cohort, and underlined text indicates variants observed in homozygosity. The variants depicted above the diagram are harbored within exons while the variants depicted below the diagram are harbored within introns. Panel B maps the 10 exonic variants to the tertiary structure of the mitochondrial malate dehydrogenase protein. Binding sites for nicotinamide adenine dinucleotide (NAD) and malate are also shown.