title: Comparison for functional aberration of G-6-PD deficiency variants with exon 10 mutations.
abstract: Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a common inherited enzyme deficiency in many parts of the world and there are many different variants described. Every G-6-PD deficiency variant has a unique underlying genetic defect, therefore it manifests specific properties. The single amino acid substitution in the globin chain is the commonest form of G-6-PD deficiency variant. Usually, the G-6-PD deficiency variant with the pathogenesis of a single amino acid substitution presents with only one aberration in secondary structure. Although many G-6-PD deficiency variants present similar structural abnormal points their functions sometimes are discordant. Here, the author performed a functional analysis on some alpha haemoglobinopathies using a novel bioinformatic tool, Polyphen. The mutations of five G-6-PD deficiency variants with exon 10 mutations, Guadalajara (386 Arg-->Cys), Beverly Hills (387 Arg-->His), Serres (361 Ala-->Val), Iowa (385 Lys-->Glu), and Clinic (405 Met-->Ile) were selected for further study in this investigation. According to the in silico mutation study, the functional change in the G-6-PD deficiency variants with exon 10 mutations studied is variable. Here, it indicates that the functional aberration in the G-6-PD deficiency variant is based on complex pathogenesis. The identification of the structural aberration only in a G-6-PD deficiency variant is not sufficient and should be supplemented with a further functional analysis for a better insight in this topic.
authors: Department of Laboratory Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand. wviroj@pioneer.netserv.chula.ac.th
authors: Viroj
authors: V
authors: Wiwanitkit
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D019295:Computational Biology; D005091:Exons / Q000235:genetics*; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008957:Models, Genetic; D017354:Point Mutation
chemical_list: D005954:Glucosephosphate Dehydrogenase