title: Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
abstract: Mucopolysaccharidosis type VI (MPS VI) is a genetic disorder caused by a deficiency of arylsulfatase B (ARSB). In our previous study, we investigated the structural changes in ARSB caused by amino acid substitutions associated with MPS VI, and revealed that such structural changes in ARSB were correlated with the clinical phenotypes. To the best of our knowledge, there is no database containing the structures of mutant ARSBs. Here, we built a database of clinical phenotypes, genotypes and structures of mutant ARSBs (http://mps6-database.org). This database can be accessed via the Internet, and is user friendly being equipped with powerful computational tools. This database will be useful for a better understanding of MPS VI.
authors.affiliation: Department of Medical Management and Informatics, Hokkaido Information University, Ebetsu, Hokkaido, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Saito
authors.forename: Kazuki
authors.initials: K
authors.lastname: Ohno
authors.forename: Masakazu
authors.initials: M
authors.lastname: Sekijima
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Suzuki
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D030541:Databases, Genetic; D005838:Genotype; D006801:Humans; D020407:Internet; D009087:Mucopolysaccharidosis VI / Q000235:genetics*; D009154:Mutation; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000737:chemistry / Q000235:genetics*; D010641:Phenotype; D014584:User-Computer Interface
chemical_list: D020051:N-Acetylgalactosamine-4-Sulfatase