What is the result of a missense mutation?

A missense mutation is characterized by a change in a single nucleotide in a gene that results in the substitution of one amino acid for another in the protein that the gene encodes. This alteration in the amino acid sequence can have various effects on the structure and function of the resulting protein. If the substituted amino acid has similar properties to the original, the protein may function normally. However, if the change is significant, it might impact the protein's activity or stability, potentially leading to disease or dysfunction.

In contrast, scenarios where there is no change in the amino acid sequence are typically associated with silent mutations, where the altered codon codes for the same amino acid due to the redundancy of the genetic code. Likewise, the premature termination of the protein is indicative of a nonsense mutation, which introduces a stop codon. Lastly, some mutations may be neutral, impacting neither the amino acid sequence nor the protein function, but this is not a characteristic outcome of a missense mutation, which by definition results in an altered amino acid sequence.