Wild-type Mutant 1 Mutant 2 Mutant 3 Stop silent DNA 3 CTT 5 5 3 5 Val missense 3CTC 5 5 GAG 3 mRNA GAA 3 5 GAA 3' CAT5 GTA 3 5 GUA 3 5 GAG 3 3 ATT 5 5 TAA 3 5' UAA 3¹ frameshift--extensive missense Amino acid a Glu d 9 Glu substitution nonsense b h Type of mutation N/A insertion or deletion frameshift--immediate nonsense C Effect on polypeptide normal

Biochemistry
9th Edition
ISBN:9781319114671
Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Publisher:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Chapter1: Biochemistry: An Evolving Science
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7L.6.2

### Part B - Point Mutations

The instructions for assembling polypeptides are contained in DNA. Consequently, mutations in DNA sometimes affect protein structure. A mutation will initially affect a protein's primary structure, but changes at higher levels of structure may follow.

Point mutations are mutations that affect a single nucleotide pair in DNA. The figure below shows different types of point mutations and the effects they have on protein primary structure.

#### Wild Type

- **DNA Template Strand:**  
  3' - T A C T C A A A C C A G C A T - 5'
  
- **mRNA:**  
  5' - A U G A G U U U G G U C G U A - 3'
  
- **Protein (Amino End to Carboxyl End):**  
  Met - Lys - Phe - Gly

#### (a) Nucleotide-pair Substitution

1. **Silent Mutation** (No effect on amino acid sequence)
   - **A instead of G**  
     DNA:  
     3' - T A C T C A A C C A G C A T - 5'  
     mRNA:  
     5' - A U G A G U U G G U C G U A - 3'  
     Protein:  
     Met - Lys - Phe - Gly

2. **Missense Mutation** (Amino acid change)
   - **T instead of C**  
     DNA:  
     3' - T A C T C T A A C C A G C A T - 5'  
     mRNA:  
     5' - A U G A G A U U G G U C G U A - 3'  
     Protein:  
     Met - Lys - Phe - Ser

3. **Nonsense Mutation** (Premature stop codon)
   - **A instead of T**  
     DNA:  
     3' - T A C T C A A A C T A G C A T - 5'  
     mRNA:  
     5' - A U G U U U G U A G C U A - 3'  
     Protein:  
     Met - Stop

#### (b) Nucleotide-pair Insertion or Deletion

1. **Frameshift Causing Immediate Nonsense** (1 nucleotide-pair insertion)
   - **Extra
Transcribed Image Text:### Part B - Point Mutations The instructions for assembling polypeptides are contained in DNA. Consequently, mutations in DNA sometimes affect protein structure. A mutation will initially affect a protein's primary structure, but changes at higher levels of structure may follow. Point mutations are mutations that affect a single nucleotide pair in DNA. The figure below shows different types of point mutations and the effects they have on protein primary structure. #### Wild Type - **DNA Template Strand:** 3' - T A C T C A A A C C A G C A T - 5' - **mRNA:** 5' - A U G A G U U U G G U C G U A - 3' - **Protein (Amino End to Carboxyl End):** Met - Lys - Phe - Gly #### (a) Nucleotide-pair Substitution 1. **Silent Mutation** (No effect on amino acid sequence) - **A instead of G** DNA: 3' - T A C T C A A C C A G C A T - 5' mRNA: 5' - A U G A G U U G G U C G U A - 3' Protein: Met - Lys - Phe - Gly 2. **Missense Mutation** (Amino acid change) - **T instead of C** DNA: 3' - T A C T C T A A C C A G C A T - 5' mRNA: 5' - A U G A G A U U G G U C G U A - 3' Protein: Met - Lys - Phe - Ser 3. **Nonsense Mutation** (Premature stop codon) - **A instead of T** DNA: 3' - T A C T C A A A C T A G C A T - 5' mRNA: 5' - A U G U U U G U A G C U A - 3' Protein: Met - Stop #### (b) Nucleotide-pair Insertion or Deletion 1. **Frameshift Causing Immediate Nonsense** (1 nucleotide-pair insertion) - **Extra
In this activity, you will examine three different mutations.

1. **Instructions**:
   - Drag the white and purple labels to the white targets to indicate what each mutant mRNA codon codes for. (You may need to consult the [codon table for mRNA](#) for this.)
   - Drag the pink labels to the pink targets to indicate the type of mutation.
   - Drag the blue labels to the blue targets to indicate the effect on the polypeptide’s primary structure.

2. **Labels**:
   - **Codon Labels**:
     - Stop
     - Val
     - Glu

   - **Mutation Type Labels**:
     - Substitution
     - Insertion or deletion

   - **Polypeptide Effect Labels**:
     - Silent
     - Missense
     - Nonsense
     - Frameshift—immediate nonsense
     - Frameshift—extensive missense

3. **Table Explanation**:
   The table below describes the DNA sequence, mRNA transcript, corresponding amino acid, type of mutation, and effect on the polypeptide for a wild-type and three mutant sequences.

   - **Wild-type**:
     - **DNA**: 3' C T T 5' / 5' G A A 3'
     - **mRNA**: 5' G A A 3'
     - **Amino acid**: Glu
     - **Type of Mutation**: N/A
     - **Effect on Polypeptide**: Normal

   - **Mutant 1**:
     - **DNA**: 3' C A T 5' / 5' G T A 3'
     - **mRNA**: 5' G U A 3'
     - **Amino acid**: (Target for codon label)
     - **Type of Mutation**: (Target for mutation type)
     - **Effect on Polypeptide**: (Target for polypeptide effect)

   - **Mutant 2**:
     - **DNA**: 3' C T C 5' / 5' G A G 3'
     - **mRNA**: 5' G A G 3'
     - **Amino acid**: (Target for codon label)
     - **Type of Mutation**: (Target for mutation type)
     - **Effect on Polype
Transcribed Image Text:In this activity, you will examine three different mutations. 1. **Instructions**: - Drag the white and purple labels to the white targets to indicate what each mutant mRNA codon codes for. (You may need to consult the [codon table for mRNA](#) for this.) - Drag the pink labels to the pink targets to indicate the type of mutation. - Drag the blue labels to the blue targets to indicate the effect on the polypeptide’s primary structure. 2. **Labels**: - **Codon Labels**: - Stop - Val - Glu - **Mutation Type Labels**: - Substitution - Insertion or deletion - **Polypeptide Effect Labels**: - Silent - Missense - Nonsense - Frameshift—immediate nonsense - Frameshift—extensive missense 3. **Table Explanation**: The table below describes the DNA sequence, mRNA transcript, corresponding amino acid, type of mutation, and effect on the polypeptide for a wild-type and three mutant sequences. - **Wild-type**: - **DNA**: 3' C T T 5' / 5' G A A 3' - **mRNA**: 5' G A A 3' - **Amino acid**: Glu - **Type of Mutation**: N/A - **Effect on Polypeptide**: Normal - **Mutant 1**: - **DNA**: 3' C A T 5' / 5' G T A 3' - **mRNA**: 5' G U A 3' - **Amino acid**: (Target for codon label) - **Type of Mutation**: (Target for mutation type) - **Effect on Polypeptide**: (Target for polypeptide effect) - **Mutant 2**: - **DNA**: 3' C T C 5' / 5' G A G 3' - **mRNA**: 5' G A G 3' - **Amino acid**: (Target for codon label) - **Type of Mutation**: (Target for mutation type) - **Effect on Polype
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