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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

Fig. 4

a Family III pedigree and sequence chromatograms. Both parents are heterozygous and the affected proband is homozygous for this stop-gain mutation in MPV17 gene. The proband is marked by an asterisk. b Comparative amino acid alignment of MPV17 protein across different kingdoms. The conserved glutamine residue is shown in the box. c Protein structure was predicted by I-TASSER server for 3D protein structure prediction. The secondary structure of protein is changed as a result of the mutation. The deleted region is showed in pink

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BMC Medical Genetics

ISSN: 1471-2350

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