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Codon charts sometimes show abbreviations for amino acids rather than the first three letters. The abbreviation for phenylalanine (Phe) is F. The most common form of CF is described as F508Del. Explain why this letter combination F508Del is used to describe this particular mutation. Explain each coloured section.

User AaronJPung
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Final answer:

The term F508Del indicates a mutation in cystic fibrosis where phenylalanine at position 508 is deleted, impacting protein function. The genetic code translates nucleotide triplets into amino acids, with each amino acid potentially having multiple encoding codons. The primary structure of a protein is detailed from the N-terminus to the C-terminus using one-letter amino acid abbreviations.

Step-by-step explanation:

The codon chart's system of abbreviations, such as 'F' for phenylalanine, makes it easier to denote the long sequences of amino acids in proteins. The term F508Del is a concise way to describe a specific mutation associated with Cystic Fibrosis (CF), where 'F' stands for phenylalanine, '508' indicates the position of the amino acid in the chain, and 'Del' signifies a deletion. In the case of CF, the 508th amino acid phenylalanine is missing, which significantly impacts the function of the CFTR protein, leading to the disease.

The Nobel Prize winners M. W. Nirenberg, H. G. Khorana, and R. W. Holley have greatly contributed to our understanding of the genetic code by showing how triplet nucleotide sequences translate into amino acids, which are the building blocks of proteins. The use of three-nucleotide sequences, or codons, means there are 64 possible combinations, allowing multiple codons to encode for the same amino acid. Thus, the primary structure of a protein is determined from the N-terminus to the C-terminus using either three-letter or more conveniently, one-letter abbreviations for each amino acid.

Moreover, the sequence of these amino acids is crucial for protein function, and any alteration, like the F508Del mutation in CF, can lead to significant changes in protein function and, consequently, disease.

User Hillkorn
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