All publicly available mutations of the dysferlin gene described or predicted in the literature as deleterious have been uploaded in UMD-DYSF, exclusively.
UMD-DYSF v1.4 currently contains 1174 entries, each entry corresponding to one mutation associated with one affected individual, either index patient or affected relative. UMD-DYSF entries include 416 different disease-causing mutations identified in 843 patients worldwide. Mutations with no clear pathogenic effect were not collected in UMD-DYSF. A list of known polymorphisms of the dysferlin gene is available on the Leiden Muscular Dystrophy pages and on the UCSC Genome Browser pages. The DYSF gene has a large mutational spectrum with a high proportion of missense changes or frameshifting insertions and/or deletions. Among DYSF disease-causing mutations, a total of seven founder mutations have been reported. Analysis of the distribution of mutations along the CDS and domains shows no mutational hotspot.
UMD-DYSF v1.4 data (June 16, 2015) in a tab-delimited file for download
UMD-DYSF v1.3 data (March 16, 2015) in a tab-delimited file for download
UMD-DYSF v1.2 data (July 8, 2014) in a tab-delimited file for download
UMD-DYSF v1.1 data (April 26, 2013) in a tab-delimited file for download
UMD-DYSF v1.0 data (April 12, 2011) in a tab-delimited file for download
Mutation names in UMD-DYSF are given according to nomenclature guidelines from the Human Genome Variation Society (den Dunnen and Antonarakis 2003, http://www.hgvs.org/mutnonem/) and numbered with respect to the DYSF gene cDNA sequence (+1=A of ATG) (NM_003494.2, Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), mRNA). An anonymous ID is attributed to each patient data included in the database (Sample ID, for example AUS19-1-1-0).
Different tools are available to search for mutations in UMD-DYSF or to analyze novel mutations not referenced in the database:
* I Found a Mutation
Determines the frequency of a given mutation in the database. Displays a table of the various mutational events for this position. If your mutation is not listed in this database, you can check if it is reported as a known polymorphism on the Leiden Muscular Dystrophy pages.
* I Want to Analyze the Impact of a Missense Variant
This feature uses the UMD-Predictor® algorithm (Frederic et al. 2009) to predict the pathogenicity of all possible non-synonymous or synonymous mutations from the DYSF gene.
* I Want to Analyze an Intronic Variant
The Human Splicing Finder tool (Desmet et al. 2009) evaluates the consequences of substitutions on splicing.
* I Want to Search the Database
Allows the selection of a specific subset of the database. Results are displayed as a list on the screen along with a request ID corresponding to the search. A previous set of records can be displayed entering its corresponding request ID. The user can also customize the display format.
If you want to submit a mutation, please contact M. Krahn.