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Fig. 5 | BMC Medical Genetics

Fig. 5

From: A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

Fig. 5

a The homozygous mutation (c.727G > C, p.G243R) is indicated by the arrow in the upper panel. The normal allele is shown in the lower panel. b Protein sequence alignment of FBXO32 orthologs demonstrating that the glycine residue is a conserved amino acid down to zebrafish (D. rerio). c In Silico Protein model generated using Expasy-based modeling tools. On the left, the color of the model is based on the size properties of the amino acids. The color-coded polarity and hydrophobicity for the variant is given below the figure. The variant is predicted to destabilize the structure

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BMC Medical Genetics

ISSN: 1471-2350

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