title: G6PD-MutDB: a mutation and phenotype database of glucose-6-phosphate (G6PD) deficiency.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymatic disorder of red blood cells in humans due to mutations in the G6PD gene. The G6PD enzyme catalyzes the first step in the pentose phosphate pathway to protect cells against oxidative stress. Mutations in the G6PD gene will cause functional variants with various biochemical and clinical phenotypes. So far, about 160 mutations along with more than 400 biochemical variants have been described. G6PD-MutDB is a disease-specific resource of G6PD deficiency, collecting and integrating G6PD mutations with biochemical and clinical phenotypes. Data of G6PD deficiency is manually extracted from published papers, focusing primarily on variants with identified mutation and well-described quantitative phenotypes. G6PD-MutDB implements an approach, CNSHA predictor, to help identify a potential chronic non-spherocytic hemolytic anemia (CNSHA) phenotype of an unknown mutation. G6PD-MutDB is believed to facilitate analysis of relationship between molecular mutation and functional phenotype of G6PD deficiency owing to convenient data resource and useful tools. This database is available from http://202.120.189.88/mutdb.
authors.affiliation: Department of Bioinformatics, Tongji University, Shanghai, P R China. 052970sean@tongji.edu.cn
authors.forename: Xin
authors.initials: X
authors.lastname: Zhao
authors.forename: Zuofeng
authors.initials: Z
authors.lastname: Li
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhang
mesh_terms: D019295:Computational Biology; D018076:DNA, Complementary / Q000235:genetics; D030541:Databases, Genetic; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype
chemical_list: D018076:DNA, Complementary; D005954:Glucosephosphate Dehydrogenase