Figure 1

The different levels at which regulatory mutations can have an effect. 'Reg' indicates a regulatary region. Red stars indicate the position of a putative mutation. There can be mutations that: i) have an effect on the stability of the pre-mRNA; ii) have an effect on the stability of the mRNA or the rate of its translation (eg micro-RNA pairing); iii) have an effect on the structure of the protein and influence interactions with DNA or other proteins; iv) have an effect directly at the DNA level and abolish or modify sites of protein binding or affect DNA conformation.