Imagine you recover a mutation that contains a transversion in the T of the GT consensus sequence in 5' splice site of exon 2 of your gene of interest. Upon sequencing you also notice that there is a cryptic or alternative GT splice site 5bp upstream. What would you predict would be the outcome of the mutation on the transcript that is produced? Use of the alternative splice site would cause exon 3 to be deleted. With a mutated splice site intron 2 would be included. Mutation in intron 2 would cause exon 3 to be skipped. Mutation in intron 2 would cause exon 2 to be skipped. Use of the alternative splice site would create a 5 bp deletion of exon 2.
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