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Fig. 2 | Journal of Biomedical Science

Fig. 2

From: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

Fig. 2

a) WNT1 protein’s functional residues that are glycosylated are colored blue while the residues forming disulfide linkages are in yellow and the natural variants (known mutations) are shown in black. Mutation G to C at position 324 is shown in red. b) Wild type zoomed in at the mutation site, the red residue is the G324 and the yellow residues to its right and left are C315 and C330 respectively. The blue residue at the side is the N316 which is glycosylated. c) Same site for the mutated protein. d) Comparison of interaction sites for WNT1 (wild and mutant forms). e) Meta SNP prediction for WNT1 mutation (p.G324C) effect

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