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Fig. 2 | BMC Medical Genomics

Fig. 2

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. 2

Prediction of the functional influence of FAH variant c.914-1G>A. a The predicted amino acid sequences of normal and mutant transcripts. The variant produced a truncated FAH protein and another different protein. b The position of potential premature stop codon of the truncated protein and associated functional domain. The numbers indicated the residue number. One substrate binding site was damaged due to premature stop codon. c Multiple-sequence alignment of FAH from different species revealed that Thr 350, one of the five substrate binding sites, was located within a highly conserved region

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BMC Medical Genomics

ISSN: 1755-8794

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