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Fig. 4 | Journal of Translational Medicine

Fig. 4

From: Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Fig. 4

Multiple protein sequence alignment and 3D structure of the human Twinkle protein in regions encompassing p.Asn399Ser and p.Arg601Gln mutations. a Multiple protein sequence alignment of selected sequences. Two regions of the twinkle protein are shown: (i) the region joining the linker and the helicase domains (Region I) and (ii) the region involved in stabilizing the adenine ring of ATP (Regions II and III). The numbers above the alignment correspond to the amino acid position in the human protein sequence. (b–c) Two interacting monomers of the Twinkle protein are colored white and blue. Changes in the conformation of a region next to the linker domain in p.Asn399Ser mutant (b) and in wild type (c) proteins are shown. (d–e) Changes in hydrogen bonds network resulting in weakened ATP binding in the p.Arg601Gln mutant (d) as compared to wild type (e) protein are depicted

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