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Fig. 2 | Lipids in Health and Disease

Fig. 2

From: Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II

Fig. 2

Identification of the ETFDH gene mutations and the ETFDH protein structural analysis. a Pedigree of the family based on direct sequencing of the ETFDH gene. b Electropherogram of the proband. c.250G > A (p.A84T) mutation at exon 3 and c.920C > G (p.S307C) mutation at exon 8 of the ETFDH gene were identified. c The 3D models of human ETFDH structures. d The wild type and S307C mutational structures showed cyan and green cartoons. Oxygen atoms are shown in red and nitrogen atoms in blue. Carbon atoms of wild type, S307C mutation and ubiquinone are shown in cyan, green and white, respectively. The phosphorus atom of mutational Cys307 is shown in yellow-orange. Crucial residues in the binding site of ubiquinone are shown as stick and labeled. Figures were generated by PyMol

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