Use in clinical context
Mature mRNA is a crucial step in protein synthesis. At this stage, the introns and any exons that are not required have been removed from the mRNA by splicing, leaving only the exons that code for the amino acids that make up the protein.
Variants in a gene can affect splicing, either by not removing introns or exons that should be removed, or by removing exons that should be left in. This can result in the wrong forms of the protein being made.
Many cancers show aberrant splicing and variants affecting splicing can also result in rare diseases, such as retinitis pigmentosa.