A mutation causes Asp-47 in a protein\'s sequence to be replaced by Leu-47. This

Question

A mutation causes Asp-47 in a protein's sequence to be replaced by Leu-47. This makes the protein inactive and results in a disease. A similar disease is observed if Lys-132 is changed to Val-132. However, a double mutant occurs in some healthy people which still has Leu-47 but also contains the second mutation changing Lys-132 to Val-132 which allows the protein to regain its activity. Give a convincing explanation for why the double mutant regains activity. Use your knowledge of protein folding, NCI's and protein secondary and tertiary structures in your answer. Explain whether you think it is an effect on secondary OR tertiary structure and why you favor one idea and why the other is ruled out!! You may use a picture if it helps your explanation.

Explanation / Answer

The protein regains it activity in case of double mutants. Actually, both two mutation causes the displacement of charged amino acid with polar amino acid. The different protein associated with amino acid vary in the structure of R-group. Here the charged group is replaced by the aliphatic group

The first mutation destroys the native structure of the protein but the second mutation causes the mutant protein to regain the activity as the second mutation compensate for the first loss and make the protein regain its conformation.

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