The UMD-DYSF mutations database
Statistics module

This database includes 81 references and 1174 mutations


 
The UMD-Predictor® tool (Frederic et al. 2009) predicts the pathogenicity of missense variants localized in the coding sequence.

 
Gives a summary of mutation types.

 
Studies the distribution of mutations at the nucleotide level to identify preferential mutation sites

 
Displays all codons from a specific exon that can be mutated in a stop codon by a single substitution.

 
This feature displays the distribution of the various mutations along the gene and the protein.

 
This feature displays the distribution of the large deletions reported along the gene and the protein.

 
Displays the exon phasing and the position and number of reported nonsense mutations.

 
Displays geographic origin of patients.

 
Displays the distribution of the various mutations along the gene for two chosen subsets of the database.

 
Studies the distribution of mutations in the different exons. It enables detection of a statistically significant difference between observed and expected mutations

 
Displays the partition of each type of mutation in each exon

 
Studies the distribution of mutations both in the various structural domains of the protein and in the highly conserved domains