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Splicing and stop codon
- Question
- Hello,
There are among the numerous cystic fibrosis mutations, nonsense mutations (stop codon) and splicing mutations. Some splicing mutations lead to the formation of a stop codon. Is it the case of the 1811+1,6 Kb A> G? Thank you for your answer. - Answer
- Hello,
The 1811+1,6 Kb A>G mutation is a splicing mutation that results in abberant splicing but not in a premature stop codon. Could you clarify your question if you need other info? Meanwhile, you could consult the CFTR2 website where you can find several precise information on this rare mutation: www.cftr2.org/index.php.
Best regards
Dr. Harriet Corvol
- 05.05.2014
