What is the result of a missense mutation?

A missense mutation results in a change in the amino acid sequence of a protein. This type of mutation occurs when a single nucleotide change in the DNA sequence results in the substitution of one amino acid for another in the protein produced. The specific amino acid that is changed can significantly affect the protein's structure and function, potentially leading to altered activity, loss of function, or even gain of a new function, depending on the role of the altered amino acid in the protein's overall structure.

This outcome distinguishes a missense mutation from other types of mutations, such as nonsense mutations, which lead to early termination of translation, or silent mutations, which do not result in a change to the amino acid sequence at all. Understanding the implications of missense mutations is crucial in molecular biology and genetics, particularly in the study of genetic diseases and variations in protein function.