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Unformatted text preview: There is nothing particularly special about a triplet deletion which removes exactly one amino acid from the polypeptide (and which may change one amino acid at the mutation site). However, I include it because the most common mutation in cystic fibrosis is deltaF508 (i.e. deletion of amino acid number 508 (a phenylalanine, F)). splice site Frameshifts can also come about by mutations which interfere with mRNA splicing. The beginning and end of each intron in a gene are defined by conserved DNA sequences. If a nucleotide in one of the highly conserved positions is mutated then the site will no longer function with predictable consequences for the mature mRNA and the coded protein product. There are many examples of such mutations, for instance, some beta thalassemia mutations in the beta globin gene are caused by splice junction mutations....
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This note was uploaded on 11/22/2011 for the course CHEMISTRY CHM1025 taught by Professor Laurachoudry during the Fall '10 term at Broward College.
- Fall '10