UMD-CFTR

Using the generic software Universal Mutation Database (UMD®), we have developed the UMD-CFTR Knowledgebase to extensively annotate and analyse mutations, variations, haplotypes, complex alleles, genotypes identified in patients by expert laboratories and associated phenotypes. It aims at making the information readily accessible to anyone interested in the genetic variation of the CFTR gene, and at providing an easy way for those who investigate these variations to share information.
At least 1700 CFTR sequence variations have been described so far (www.genet.sickkids.on.ca/cftr/); some are rare or unique and their clinical significance is unclear, particularly for missense mutations and potential mRNA splicing defects. To predict their pathogenic effect, the UMD-CFTR provides various bioinformatics tools including SSF (Splicing Sequence Finder), SIFT (Sorting Intolerant from Tolerant, blocks.fhcrc.org/sift/SIFT.html), conservation data and UMD predictor.