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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

Fig. 4

Model of the three-dimensional structure of Twinkle protein (The homohexameric T7 gp4 helicase domains are in cyan). (a) The modeled protein green and superimposed with the blue subunit. Mutated protein is in orange. (b) Magnification of the the linker domain where Pro396 is localized at. Mutated Ser396 is in red. (c) Magnification of the the linker domain where Gly615 is localized at. Mutated Ala 615 is in red

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