Aberrant splicing

Patent Granted It has been suggested that one third of all disease-causing mutations impact on splicing.[26] Common errors include: Mutation of a splice site resulting in loss of function of that site. Results in exposure of a premature stop codon, loss of an exon, or inclusion of an intron. Mutation of a splice site reducing specificity. May result in variation in the splice location, causing insertion or deletion of amino acids, or most likely, a disruption of the reading frame. Displacement of a splice site, leading to inclusion or exclusion of more RNA than expected, resulting in longer or shorter exons.