Skip to content

Course home

Sign up

3.4.4 Effects of genetic mutations on phenotype

A base change can alter a protein

Definition

Mutation

A random change in the base sequence of DNA that can produce a new allele.

  1. A mutation changes the base sequence of DNA.
  2. A mutation in a coding region may change a codon and therefore alter the amino acid sequence of a protein.
  3. A changed amino acid sequence may alter how the polypeptide folds.
  4. Different folding can change the protein's three-dimensional shape and its function.
  5. If an enzyme's active site changes shape, fewer substrates bind and the reaction rate may decrease.
Note

Trace the full causal chain in an explanation: base sequence →\rightarrow→ codon →\rightarrow→ amino acid sequence →\rightarrow→ protein shape →\rightarrow→ protein function →\rightarrow→ phenotype.

Non-coding mutations can change gene expression

  1. A mutation in non-coding DNA can change whether a gene is switched on or off.
  2. It can also change how much protein the cell produces.
  3. A change in the amount of protein can alter the phenotype even when the protein's amino acid sequence is unchanged.

Mutations have different effects

  1. Most mutations have no effect on phenotype.
  2. A coding mutation may have no effect because the altered codon specifies the same amino acid.
  3. Some mutations have a small effect, while a rare mutation may have a large harmful or beneficial effect.
  4. Whether a mutation is advantageous depends on the environment.

A base substitution that leaves the encoded amino acid unchanged, showing why some mutations do not alter phenotype.

A mutation can produce a new allele

Definition

Allele

A different version of a gene.

  1. A mutation within a gene creates a new allele of that gene.
  2. DNA replication copies the allele so that it passes to daughter cells.
  3. A mutation in a body cell is not normally inherited by offspring.
  4. A mutation in a cell that forms a gamete can be inherited.

A mutation in a sperm cell being inherited at fertilisation and producing an altered phenotype in the offspring.

Example
  • DNA change: a substitution changes one codon in a gene coding for an enzyme.
  • Protein change: the new codon places a different amino acid in the polypeptide.
  • Shape change: the polypeptide folds differently and changes the active site.
  • Phenotype change: fewer enzyme-substrate complexes form and the reaction rate decreases.

Gene and allele must not be confused

  1. A gene is a section of DNA that codes for a protein or functional RNA.
  2. An allele is a different version of the same gene.
  3. A mutation normally creates a new allele rather than a completely new gene.
Self review
  • What is a mutation?
  • How can a coding mutation alter phenotype?
  • How can a non-coding mutation alter phenotype?
  • When can a mutation be inherited?
  • How does an allele differ from a gene?
PreviousNext

How was this guide?

Teach Genie

Review 3.4.4 Effects of genetic mutations on phenotype by teaching Genie

Teach it back in your own words, spot gaps, and remember it better.

Start teaching
Genie and Baby Genie

Lesson

Recap your knowledge with an interactive lesson

8 minute activity

Start lesson

A mutation is a random change in the base sequence of DNA. When a mutation occurs within a gene, it produces a new allele, which is a different version of that gene.

A gene is a section of DNA that codes for a protein or functional RNA. A mutation usually creates a new allele of an existing gene, not a completely new gene.

Flashcards

Remember key concepts with flashcards

21 flashcards

Practice flashcards

What part of DNA is changed by a mutation?

3.4.4 Effects of genetic mutations on phenotype Revision Guide

  1. GCSE
  2. /Biology
  3. /3.4.4 Effects of genetic mutations on phenotype

Revision notes for Edexcel GCSE Biology 3.4.4 Effects of genetic mutations on phenotype: explanations and worked examples.

Revision guides