Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

摘要: Classical galactosemia is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. Our group developed a disease-specific database containing all of reported sequence variants GALT (Available at: http://arup.utah.edu/database/galactosemia/GALT_welcome.php; Last accessed: 13 April 2007). Currently contains total 229 variants, which 196 are (including nine novel identified our laboratory), 31 polymorphisms both introns and exons, two unknown or uncertain significance. All have been verified for their position within gene named following standard nomenclature. Sequence with accompanying information on protein effect, classification mutation vs. polymorphism, type (when applicable) based how each was first described literature, link to pertinent publication. Unpublished relevant clinical that supports as causative disease polymorphisms. Other features this include information, links reference sequences, ability query various criteria, submit variations database. This free online scientific resource laboratory mind serve repository findings periodically collected, verified, updated into Hum Mutat 28(10), 939–943, 2007. © 2007 Wiley-Liss, Inc.