The UMD-DMD France mutations database
Large lesions

The functions below are dedicated to large rearrangements of the DMD gene.

They analyze data and display results either as graphics or lists. It is restricted to data from probands. If you wish to access a list of mutations with corresponding patients, you need to use the "Search" button on the left and use one of the 3 choices (Large lesions / Large deletions or Large duplications) from the "Type and number of mutations".

Deletion map

This function shows the consequence of the various deletions of the DMD gene. The graphical presentation displays the various domains of the protein and the antibodies whose epitopes are affected by the deletion. Note that out of frame mutations mostly result in Nonsense Mediated Decay (NMD) and the prediction of truncated proteins should be interpreted with caution.

Deletions and duplications graph (sorted by frequency)

This function displays the frequency and extend of the various deletions and duplications of the DMD gene.

Deletions and duplications graph (sorted by position)

This function displays the frequency and extend of the various deletions and duplications of the DMD gene.

Impact of deletions on the reading frame

This option displays the impact of all possible large deletions (one or more exons) on the reading frame.

Impact of duplications on the reading frame

This option displays the impact of all possible large duplications (one or more exons) on the reading frame.

Impact of large lesions on isoforms

This option displays the impact of large reported lesions (one or more exons) on the various dystrophin isoforms.

Breakpoints distribution

This option displays a graph of large deletions and duplications breakpoints.

Breakpoints distribution (analysis of deletions and duplications size)

This option displays four graphs of large deletions and duplications to evaluate the relationship between size of the large rearrangement and the position of the 5' involved exon.