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Substitution of Bases

A mutation may arise where one nucleotide base is substituted for another.For example if in the template strand triplet GTC cytosine is substituted with guanine, the triplet code will read GTG and code for histidine rather than glutamine. This is called a base substitution and the effect will depend on the role the amino acid plays in the protein.Histidine and glutamine have different structures and properties. If the amino acid replaced is in the active site of an enzyme it may cause a change of function of enzyme by altering the shape of the active site, or the enzyme may not function at all.On the other hand the base substitution may cause no discernable change. This is known as a silent mutation.A base substitution may result in the same amino acid being incorporated into the polypeptide chain.For example if GTC was changed to GTT since both triplets code for glutamine there would be no change in the amino acid sequence.

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Specification: AQA Biology (7401), AS-level, 3.4.3 Genetic diversity can arise as a result of mutation or during. Topic: Genetic Diversity.

Key terms in this lesson

active site
The region of an enzyme, formed by the tertiary structure, with a shape complementary to its substrate, where the substrate binds.
nucleotide
A molecule made of a pentose sugar, a phosphate group and a nitrogen-containing base.
triplet code
A code in which a sequence of three DNA bases (a triplet) codes for one amino acid.
mutation
A random change in the amount, arrangement or base sequence of the DNA of an organism.

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All 19 lessons in Genetic Diversity · All AQA AS-level Biology topics