DMD exonic deletions/duplications reading-frame checker 1.9 Updated 2009/03/03 14:38:49 CET
The predictions are based on direct translation of the DMD mRNA, which is generated by deletion / insertion (duplication) of the exons as selected by the user. Please note that for data derived from analysis of DNA the result is just a prediction based on these data only; without confirmation on RNA level (experimental evidence), this prediction does not provide certainty and cannot be used as evidence for the effect which the change detected will have on RNA level. Literature reports several exceptions where changes at DNA level do not match exactly with changes on RNA level. For example, on RNA-level more exons might be missing because signals required for correct splicing are disrupted or deleted. In addition, intronic sequences flanked by inefficient splicing signals (so called 'cryptic' splice sites) might be activated yielding newly recognized exons incorporated in the mRNA.