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Fig. 3 | Genome Medicine

Fig. 3

From: Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

Fig. 3

GNAO1 NM_020988.3:c.980C > A p.(Thr327Lys). A Predicted structure of GNAO1 residues 3–347, modelled on template 6crk chain A; the protein is coloured grey by default, with residues of the five nucleotide binding G boxes blue; the view shows both the protein ribbon and surface, sliced through to demonstrate the interior of the binding pocket; the Thr327 sidechain and guanosine diphosphate (GDP) ligand are shown as space-filling spheres, with carbon atoms of Thr327 coloured orange. B As A, but showing the predicted structure of the p.(Thr327Lys) variant; note that the novel lysine sidechain is predicted to occlude the binding pocket, with ligand absent from the predicted structure. Models obtained using PDB 3c7k as template were essentially identical to those shown here for 6crk-based modelling

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