Figure 2 | European Journal of Human Genetics

Figure 2

From: Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Figure 2

Location of missense mutations in the MPV17 protein. Schematic representation of the MPV17 protein, which is localized to the inner mitochondrial membrane; the 4 α-helical transmembrane spanning domains are indicated by red rectangles, and the number of the first and last amino acids of each of these domains is annotated in white; novel missense mutations are indicated in blue, previously reported missense mutations also identified in this study in green and previously reported missense/inframe deletion mutations not identified in this study in grey.

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