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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation

Fig. 2

The novel variant among the species and the p63 protein structure model. a The Met307Ile substitution is located in a highly conserved site among vertebrates. The red box represents the mutated residue; b PDB ID 3us0 was used as the structural model to evaluate the effect of the Met307 variant. Stick models show the side chains of the amino acids around Met307. In wild type p63, Met307 forms two hydrogen bonds (represented by the yellow dotted lines) with Arg243 and Leu264. The hydrogen bonds are not affected in the mutant type p63

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BMC Medical Genomics

ISSN: 1755-8794

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