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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1

Fig. 3

The 3D structures of wildtype and mutant FAH proteins. a 3D modeling of the wildtype FAH protein using PyMol software. The structure of 1–304 amino acids was shown as green and the structure of 305–419 amino acids was shown as orange. The arrow indicated the position Gly 305. b 3D modeling of the structure of 305 to 419 amino acids which was lost by the truncated FAH protein (c.914_914delG) in comparison with the wildtype protein caused by the frame-shift and premature termination. c 3D modeling of the mutated protein (exon 11 skipped) which lost a lot of crucial amino acids and the structure was different from Val 305 as indicated by the arrow. The red part was the changed structure in comparison with the wildtype protein

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BMC Medical Genomics

ISSN: 1755-8794

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