What is a missense mutation?

A missense mutation is a type of genetic mutation that occurs when a single nucleotide change in the 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 amino acid sequence and potentially altered function.

Missense mutations can have various effects on protein structure and function, depending on the specific amino acid substitution that occurs. Some missense mutations may be benign and have no noticeable impact on the protein's function, while others can disrupt protein folding, stability, or interactions with other molecules, leading to a loss of function or even a gain of function.

Missense mutations can cause genetic disorders, such as sickle cell anemia, cystic fibrosis, and certain forms of cancer. They can also contribute to the development of complex diseases, such as Alzheimer's disease and cardiovascular disorders.

It is important to note that the impact of a missense mutation on protein function can vary depending on its location within the gene and the specific protein that it encodes. Functional studies and bioinformatics tools are often used to predict the potential effects of missense mutations on protein structure and function.