Why was the mutation in the active site of Lucy’s …

Biology Questions

Your scan of Lucy’s ADA gene showed a mutation in the active site. Why was this mutation not a problem?

Short Answer

The gene mutation can alter DNA sequences but typically has minimal impact when it affects non-essential amino acids, keeping the protein’s overall functionality intact. The active site’s stability is preserved if essential components remain unchanged, and the quaternary structure provides redundancy, mitigating the effects of single mutations.

Step-by-Step Solution

Step 1: Understand the Gene Mutation

A gene mutation involves a change in the DNA sequence that can potentially alter the structure of the corresponding protein. However, when this mutation affects a non-essential amino acid, its impact on the protein may be minimal. This means that the alteration does not necessarily change the overall functionality of the active site where biological interactions occur.

Step 2: Assess the Active Site Stability

The active site of a protein is crucial for its function, as it is where substrates bind and reactions are catalyzed. In the case of the mutation, if it does not alter the essential components of this active site, then the overall function of the protein remains intact. The molecule maintains its shape and state due to the stability provided by its quaternary structure, allowing it to perform its biological roles effectively.

Step 3: Evaluate the Quaternary Protein Structure

The quaternary protein structure consists of multiple protein subunits that work together. This complexity provides redundancy and stability, making single mutations less impactful. Since the mutation occurs in a non-essential part of the protein, the overall architecture and function of the protein and its active site are preserved. Consequently, the mutation is often not regarded as significant enough to cause detrimental effects.

Related Concepts

Gene Mutation

A change in the dna sequence that can potentially alter the structure of a corresponding protein, affecting its functionality

Active Site

The region of a protein where substrates bind and chemical reactions are catalyzed, crucial for the protein’s overall function

Quaternary Protein Structure

The arrangement of multiple protein subunits that together form a functional protein complex, providing stability and redundancy in response to mutations.

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