title: Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations.
abstract: In the present paper we have updated the G6PD mutations database, including all the last discovered G6PD genetic variants. We underline that the last database has been published by Vulliamy et al. [1] who analytically reported 140 G6PD mutations: along with Vulliamy's database, there are two main sites, such as http://202.120.189.88/mutdb/ and www.LOVD.nl/MR, where almost all G6PD mutations can be found. Compared to the previous mutation reports, in our paper we have included for each mutation some additional information, such as: the secondary structure and the enzyme 3D position involving by mutation, the creation or abolition of a restriction site (with the enzyme involved) and the conservation score associated with each amino acid position. The mutations reported in the present tab have been divided according to the gene's region involved (coding and non-coding) and mutations affecting the coding region in: single, multiple (at least with two bases involved) and deletion. We underline that for the listed mutations, reported in italic, literature doesn't provide all the biochemical or bio-molecular information or the research data. Finally, for the "old" mutations, we tried to verify features previously reported and, when subsequently modified, we updated the specific information using the latest literature data.
authors.affiliation: Laboratory of Clinical Molecular Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Italy. angelo.minucci@virgilio.it
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.forename: Kamran
authors.initials: K
authors.lastname: Moradkhani
authors.forename: Ming Jing
authors.initials: MJ
authors.lastname: Hwang
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D030541:Databases, Genetic; D005091:Exons; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D009154:Mutation; D016366:Open Reading Frames; D010641:Phenotype
chemical_list: D005954:Glucosephosphate Dehydrogenase