What effect does a missense mutation have on the protein produced?

A missense mutation is a specific type of point mutation where a single nucleotide change results in the substitution of one amino acid for another in the protein sequence. This can happen during DNA transcription and translation, leading to a potentially altered protein structure and function. The key aspect of a missense mutation is that it alters just one amino acid in the sequence, which can have varying effects on the protein's overall functionality depending on the role that particular amino acid plays in the protein's structure and activity.

In certain cases, this substitution may have little to no impact on the protein's function if the new amino acid has similar properties to the original. Conversely, it can also lead to significant functional changes if the amino acid change occurs at a critical site, such as an active site or a location vital for structural integrity, but a missense mutation specifically refers to the alteration of only one amino acid. This distinguishes it from other mutation types, such as nonsense mutations that create a stop codon or frameshift mutations that alter the reading frame of the protein.