Mechanism
The three DNA base pairs A-T-C at position 507 of the CFTR nucleotide sequence form the template for the mRNA codon A-U-C for the amino acid isoleucine, while the three DNA base pairs T-T-T at the adjacent position 508 form the template for the codon U-U-U for phenylalanine. The ΔF508 mutation is a deletion of the C pair from position 507 along with two T-T pairs from position 508, leaving the DNA sequence A-T-T at position 507 forming the codon A-U-U. Since A-U-U also codes for isoleucine, position 507's amino acid is unchanged, and the mutation's net effect is equivalent to a deletion ("Δ") of the sequence resulting in the codon for phenylalanine ("F") at position 508.
Read more about this topic: Delta F508
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