title: TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
abstract: Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In addition, most published mutations in this gene do not conform to current mutation nomenclature guidelines. Given these observations, we developed an online database of TCOF1 mutations in which all the reported mutations are renamed according to standard recommendations and in reference to the genomic and novel cDNA reference sequences (www.genoma.ib.usp.br/TCOF1_database). We also report in this work: 1) results of the first screening for large deletions in TCOF1 by Southern blot in patients without mutation detected by direct sequencing; 2) the identification of the first pathogenic mutation in the newly described exon 6A; and 3) statistical analysis of pathogenic mutations and polymorphism distribution throughout the gene.
authors.affiliation: Instituto Nacional de Câncer, Divisão de Genética, Rio de Janeiro, Brazil.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Splendore
authors.forename: Roberto D
authors.initials: RD
authors.lastname: Fanganiello
authors.forename: Cibele
authors.initials: C
authors.lastname: Masotti
authors.forename: Lucas S C
authors.initials: LS
authors.lastname: Morganti
authors.forename: M Rita
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D030561:Databases, Nucleic Acid; D005091:Exons / Q000235:genetics*; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D009626:Terminology as Topic
chemical_list: D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human