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. |
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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 |