Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report

Figure 4 Bioinformatics analysis. A: ORFfinder software predicted that the novel mutation gene translates a truncated protein (248 amino acids) with the deletion of 113 amino acids; B: The novel mutation in the hydroxymethylbilane synthase (HMBS) gene. The mutation shows that 5 bps (CCAGG) located at the intron and exon junction have been removed, resulting in the deletion of 4 bps of exon 10 and insertion of intron 10 (239 bps). The mutation site is represented by a red box; C: HMBS amino acid residues across different species; D: PredictProtein revealed an obvious difference between wild-type and predicted proteins in the strand and helix regions, exposed and buried regions, disordered regions, protein binding regions, and DNA and RNA binding region.