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TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature
Author(s) -
Splendore Alessandra,
Fanganiello Roberto D.,
Masotti Cibele,
Morganti Lucas S.C.,
Rita PassosBueno M.
Publication year - 2005
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20159
Subject(s) - biology , mutation , genetics , exon , rna splicing , computational biology , gene , rna
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. Hum Mutat 25:429–434, 2005. © 2005 Wiley‐Liss, Inc.