What Happens During a Missense Mutation

A genetic alteration in which a single base pair substitution alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense variants (or mutations) will alter the function of the protein.

What happens in the missense mutation?

​Missense Mutation A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein. This amino acid substitution may have no effect, or it may render the protein nonfunctional.

How does a missense mutation affect the protein folding?

Human Gene Mutation in Inherited Disease Missense mutations can cause abnormal protein folding and are, therefore, associated with reduced expression owing to instability of the protein. Reviews of mutations that affect protein stability can be found in Refs.