RNA Splicing - Splicing Errors

Splicing Errors

Common errors:

• 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.

Many splicing errors are safeguarded by a cellular quality control mechanism termed nonsense-mediated mRNA decay (NMD).