Missense mutation

Definition

A missense mutation is a type of genetic mutation where a single nucleotide change results in the substitution of one amino acid for another in the resulting protein. This can affect the protein's function, sometimes leading to disease.

5 Must Know Facts For Your Next Test

1. Missense mutations occur due to a single base pair change in DNA.
2. The resulting amino acid substitution can alter protein structure and function.
3. Not all missense mutations are harmful; some may have little to no effect on protein function.
4. Missense mutations can be classified as conservative (similar properties) or non-conservative (different properties) based on the amino acids involved.
5. These mutations are often studied in the context of genetic diseases and antibiotic resistance.

Review Questions

• What is a missense mutation and how does it differ from other types of point mutations?
• How can a missense mutation affect protein function?
• Why might some missense mutations be more harmful than others?

Related terms

Silent Mutation: A type of mutation that changes a nucleotide but does not alter the amino acid sequence of the protein.

Nonsense Mutation: A genetic mutation that changes an amino acid codon into a stop codon, leading to premature termination of the protein.

Frameshift Mutation: Mutations caused by insertions or deletions that change the reading frame of the genetic code.