What is an example of a missense mutation?

Prepare for the AAB Molecular Diagnostics Test with focused study materials and practice questions. Gain insights into questions, formats, and key topics to excel in your exam and advance your career in molecular diagnostics.

A missense mutation occurs when a single nucleotide change results in the coding of a different amino acid. This type of mutation can potentially alter the function of a protein, depending on the role of the changed amino acid in the protein's structure and activity.

In the given scenario, transforming UGC to UCC leads to a change from cysteine (Cys) to serine (Ser), representing a missense mutation. This change affects the amino acid sequence and, thus, can have functional implications for the resulting protein.

Other options involve changes in nucleotide sequences, but they either lead to no change in the amino acid sequence (synonymous mutations) or to premature stop codons (nonsense mutations) rather than coding for a different amino acid. Hence, the correct choice exemplifies the concept of a missense mutation effectively, highlighting the significance of single nucleotide alterations in protein coding sequences.

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