Conservation of CFTR codon frequency through primates suggests synonymous mutations could have a functional effect

In this work we analyzed the distribution of CFTR codon frequency in human, primates and mammals. A schematic representation of hCFTR gene is shown. Eight frequent (green) and twelve rare codon clusters (red) were found to be conserved in the eight primates analyzed. Three frequent and five rare codon clusters were found to be further conserved throughout mammals. For several clusters a high synonymous distance was found, implying that in these regions the major feature being conserved would be codon frequency. This high conservation suggests functional implications and a potential link to cystic fibrosis.