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Fig. 1 | BMC Medical Genetics

Fig. 1

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

Fig. 1

a Family I pedigree and sequence chromatograms. Both parents are heterozygous for the frameshift deletion mutation in DGUOK gene. The current pregnancy was a heterozygous carrier of the mutation. The proband is marked by an asterisk. b Clustal Omega multiple sequence alignment of all functional human encoding isoforms of DGUOK protein showing that all functional isoforms share the same amino acid sequence after codon 236. c Three dimensional structure of DGUOK wild type and mutant proteins were predicted by I-TASSER server. UCSF chimera was used to compare the structures. The deleted region is displayed in pink

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