This option displays the overall content of the UMD-DMD database according to mutation types. You can have access to a specific group of mutations by a simple click on the title (for example to access the list of all missense mutations, click on "Missense").
2898 | |
2235 | |
1901 | |
334 | |
633 | |
147 | |
54 | |
158 | |
274 | |
254 | |
20 | |
30 |
This option displays the phasing of the 79 exons of the DMD gene. You can have access to small rearrangements localized within one exon as well as large rearrangements that include this exon by a simple click on the exon of interest.
This option allows to search for a specific mutation in order to check if it has been previously reported.
This option gives access to a quick search and an advanced search interface.
If you found a mutation not reported in the UMD-DMD French database, you can check the Leiden database. You can also use the Human Splicing Finder tool to evaluate the consequences of substitutions on splicing.