What is missense mutation?

A missense mutation is a type of genetic mutation that occurs when a single nucleotide change in a DNA sequence results in a codon that codes for a different amino acid. This can lead to the production of a protein with an altered structure and function.

Missense mutations can have varying effects on the phenotype of an organism, depending on the location and nature of the mutation. Some missense mutations may be silent, meaning they do not result in any change to the protein. Others can be neutral, leading to a minor change in the protein structure that has no significant impact on its function. However, missense mutations can also be deleterious, resulting in a loss of protein function or the production of a non-functional protein.

Missense mutations can be inherited or arise de novo, and they can be responsible for a wide range of genetic disorders and diseases. Some examples of genetic disorders caused by missense mutations include cystic fibrosis, sickle cell anemia, and certain types of cancer.

Genetic testing and molecular analysis are commonly used to identify missense mutations and their effects on protein function. Understanding the consequences of missense mutations can help in the development of personalized medicine and targeted therapies for genetic diseases.