title: GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants.
abstract: We describe the GALT-Prot database and its related web-based application that have been developed to collect information about the structural and functional effects of mutations on the human enzyme galactose-1-phosphate uridyltransferase (GALT) involved in the genetic disease named galactosemia type I. Besides a list of missense mutations at gene and protein sequence levels, GALT-Prot reports the analysis results of mutant GALT structures. In addition to the structural information about the wild-type enzyme, the database also includes structures of over 100 single point mutants simulated by means of a computational procedure, and the analysis to each mutant was made with several bioinformatics programs in order to investigate the effect of the mutations. The web-based interface allows querying of the database, and several links are also provided in order to guarantee a high integration with other resources already present on the web. Moreover, the architecture of the database and the web application is flexible and can be easily adapted to store data related to other proteins with point mutations. GALT-Prot is freely available at http://bioinformatica.isa.cnr.it/GALT/.
authors: Institute of Food Science, Italian National Research Council, Avellino, Italy.
authors: Antonio
authors: A
authors: d'Acierno
authors: Angelo
authors: A
authors: Facchiano
authors: Anna
authors: A
authors: Marabotti
mesh_terms: D030562:Databases, Protein; D005693:Galactosemias / Q000235:genetics*; D023281:Genomics; D006801:Humans; D009154:Mutation; D011487:Protein Conformation; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000032:analysis* / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase