Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the<i> OTC</i> Gene

<div>(a) DNA sequencing profiles based on electropherograms; ((i) and (iii)) native human OTCase, (ii) homozygous mutation at c.513G&gt;T, and (iv) heterozygous mutation at c.595A&gt;C. (b) Multiple alignment of human OTC with seven other species. The data reveals that histidine and asparagine at positions 171 and 199, respectively, are highly conserved among other species. Mutant residues are indicated as red arrow. (c) Distribution of 16 residues represents 32 SNPs occurring at the ligand-binding pocket in human OTCase studied in this work. Novel mutations found in this study; Q171 and N199 (blue) and other mutations (magenta).</div>

BioMed Research International

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Figure 1

Figure 1: Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the<i> OTC</i> Gene 

Figure 1 | Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene 