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Figure 2 | BMC Medical Genetics

Figure 2

From: A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

Figure 2

The GLI3 mutation and structural modeling of the predicted mutant protein: A,B. Chromatograms illustrating the GLI3 c.1802A > G heterozygous mutation (A = Affected individual; B = Unaffected individual). C,D. Structural modeling of the predicted wild type (C) and mutant p.His601Arg (D) proteins. Four C2H2 comprising residues are shown. Fragmented lines indicate the coordinative bonds between C2H2 residues and the zinc (marked as small spherical shape in the center). Note that in the wild type protein (C) the bond distance between the histidine in the upper left side and the metal ion is 2.08 Å, while the shortest bond possible between the zinc and the arginine residue in the predicted p.His601Arg mutant protein is 4.34 Å (D).

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BMC Medical Genetics

ISSN: 1471-2350

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