Everything about Splice Site Mutation totally explained
A
splice site mutation is a
genetic mutation that
inserts or
deletes a number of nucleotides in the specific site at which
splicing of an
intron takes place during the processing of
precursor messenger RNA into
mature messenger RNA. The abolishment of the splicing site results in one or more introns remaining in
mature mRNA and may lead to the production of aberrant
proteins. Several
genetic diseases may be the result of splice site mutations. For example, mutations that cause the incorrect splicing of β-
globin mRNA are responsible of some cases of
β thalassemia.
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