Biochemistry
Biochemistry
9th Edition
ISBN: 9781319114671
Author: Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Publisher: W. H. Freeman
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In the image below, the blue squiggly line represents a folded protein. There are two particular amino acids that are colored red and black in the protein. The structure of each of these two specific amino acids is shown in the indicated box. A mutation occurs in the gene that encodes the protein illustrated above. The result of this mutation is that one of the amino acids above is substituted with another. Specifically, the amino acid whose structure is shaded red above (the one on the left in the illustration) is replaced by the amino acid shown below. Use this information to answer the two questions that follow. Please answer these questions.  1. Based on this description, indicate which type of mutation occurred: missense, nonsense, silent, or indel 2. How would this mutation affect this protein's structure and function? Explain in 2-4 sentences. Be specific, and be sure to include details of these specific amino acids in your response. (I'm giving you the structures of these specific amino acids for a reason...). You may refer to them as the "red," "black" and "yellow" amino acid if that makes life easier.
The image contains a diagram illustrating the impact of a genetic mutation on a protein's structure. The diagram shows a folded protein with an arrow pointing from its structure to two specific amino acids framed within boxes.

**Top Box:**
The chemical structure of the amino acid shown includes:
- An amino group: \( \text{H}_3\text{N}^+ \)
- A central carbon: \( \text{C} \)
- A hydrogen: \( \text{H} \)
- A carboxylate group: \( \text{C} \)
- Two oxygen atoms, one forming a double bond with carbon (one with a negative charge: \( \text{O}^-\))
- A side chain consisting of four methylene groups (\( \text{CH}_2 \)) and an amine group (\( \text{NH}_3^+\))

**Bottom Box:**
The chemical structure includes:
- An amino group: \( \text{H}_3\text{N}^+ \)
- A central carbon: \( \text{C} \)
- A hydrogen: \( \text{H} \)
- A carboxylate group: \( \text{C} \)
- Two oxygen atoms, one of which has a negative charge (\( \text{O}^-\))
- A side chain consisting of two methylene groups (\( \text{CH}_2 \)) connected to a carboxylate group (\( \text{C} \)), which is double-bonded to an oxygen and single-bonded to a negatively charged oxygen (\( \text{O}^-\))

**Explanation:**
The folded structure represents a protein, and the highlighted amino acids indicate a mutation where one amino acid (top structure) is replaced by another (bottom structure) in the protein sequence. The illustration highlights how a small change in the amino acid sequence might affect the overall protein structure and function.
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Transcribed Image Text:The image contains a diagram illustrating the impact of a genetic mutation on a protein's structure. The diagram shows a folded protein with an arrow pointing from its structure to two specific amino acids framed within boxes. **Top Box:** The chemical structure of the amino acid shown includes: - An amino group: \( \text{H}_3\text{N}^+ \) - A central carbon: \( \text{C} \) - A hydrogen: \( \text{H} \) - A carboxylate group: \( \text{C} \) - Two oxygen atoms, one forming a double bond with carbon (one with a negative charge: \( \text{O}^-\)) - A side chain consisting of four methylene groups (\( \text{CH}_2 \)) and an amine group (\( \text{NH}_3^+\)) **Bottom Box:** The chemical structure includes: - An amino group: \( \text{H}_3\text{N}^+ \) - A central carbon: \( \text{C} \) - A hydrogen: \( \text{H} \) - A carboxylate group: \( \text{C} \) - Two oxygen atoms, one of which has a negative charge (\( \text{O}^-\)) - A side chain consisting of two methylene groups (\( \text{CH}_2 \)) connected to a carboxylate group (\( \text{C} \)), which is double-bonded to an oxygen and single-bonded to a negatively charged oxygen (\( \text{O}^-\)) **Explanation:** The folded structure represents a protein, and the highlighted amino acids indicate a mutation where one amino acid (top structure) is replaced by another (bottom structure) in the protein sequence. The illustration highlights how a small change in the amino acid sequence might affect the overall protein structure and function.
This image displays the structural formula of an amino acid, specifically the ionized form of leucine. The diagram can be broken down as follows:

- The central carbon atom (C) is bonded to four groups: 
  - An amino group (\( \text{H}_3\text{N}^+ \))
  - A hydrogen atom (H)
  - A carboxylate group (\( \text{COO}^- \))
  - A side chain with a branched alkyl group

- The side chain consists of the following:
  - A methylene group (\( \text{CH} \)), which is bonded to two additional groups:
    - One methyl group (\( \text{CH}_3 \))
    - A second carbon atom (\( \text{CH}_2 \)) that is part of a methyl group (\( \text{CH}_3 \))

Overall, the structure demonstrates the basic features of an amino acid with a specific emphasis on the branched-chain structure typical of leucine. This structural representation is significant in studying how the structure of amino acids influences protein structure and function.
expand button
Transcribed Image Text:This image displays the structural formula of an amino acid, specifically the ionized form of leucine. The diagram can be broken down as follows: - The central carbon atom (C) is bonded to four groups: - An amino group (\( \text{H}_3\text{N}^+ \)) - A hydrogen atom (H) - A carboxylate group (\( \text{COO}^- \)) - A side chain with a branched alkyl group - The side chain consists of the following: - A methylene group (\( \text{CH} \)), which is bonded to two additional groups: - One methyl group (\( \text{CH}_3 \)) - A second carbon atom (\( \text{CH}_2 \)) that is part of a methyl group (\( \text{CH}_3 \)) Overall, the structure demonstrates the basic features of an amino acid with a specific emphasis on the branched-chain structure typical of leucine. This structural representation is significant in studying how the structure of amino acids influences protein structure and function.
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Introduction

Protein is a nitrogenous organic macromolecule that is crucial to human health. It is responsible for the creation of enzymes, hormones, and antibodies in the human body.

Proteins are built up of amino acids, which are made up of carbon, nitrogen, oxygen, and hydrogen, as well as the side chain or R group. Differences in the sidechains or R groups of amino acids can be used to distinguish them.

Mutation is a term used to describe a change in the sequence of DNA. Mutagens, viruses, a mistake during cell division, or radiation exposure can all cause it.

 




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