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).
Read more about this topic: RNA Splicing
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