title: G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.
abstract: G6PDdb (http://www.rubic.rdg.ac.uk/g6pd/ or http://www.bioinf.org.uk/g6pd/) is a newly created web-accessible locus-specific mutation database for the human Glucose-6-phosphate dehydrogenase (G6PD) gene. The relational database integrates up-to-date mutational and structural data from various databanks (GenBank, Protein Data Bank, etc.) with biochemically characterized variants and their associated phenotypes obtained from published literature and the Favism website. An automated analysis of the mutations likely to have a significant impact on the structure of the protein has been performed using a recently developed procedure. The database may be queried online and the full results of the analysis of the structural impact of mutations are available. The web page provides a form for submitting additional mutation data and is linked to resources such as the Favism website, OMIM, HGMD, HGVBASE, and the PDB. This database provides insights into the molecular aspects and clinical significance of G6PD deficiency for researchers and clinicians and the web page functions as a knowledge base relevant to the understanding of G6PD deficiency and its management.
authors.affiliation: Department of Biochemistry, University of Hong Kong, Hong Kong.
authors.forename: Colin J
authors.initials: CJ
authors.lastname: Kwok
authors.forename: Andrew C R
authors.initials: AC
authors.lastname: Martin
authors.forename: Shannon W N
authors.initials: SW
authors.lastname: Au
authors.forename: Veronica M S
authors.initials: VM
authors.lastname: Lam
mesh_terms: D030541:Databases, Genetic; D030562:Databases, Protein; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics; D006801:Humans; D020407:Internet; D009154:Mutation / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics
chemical_list: D005954:Glucosephosphate Dehydrogenase