What are missense mutations?

1 Answer
Apr 26, 2015

A missense mutation is when a single base-pair is substituted so that a different amino acid is translated.

http://en.wikipedia.org/wiki/Missense_mutation#/media/File:Missense_Mutation_Examplejpg

Sometimes the new amino acid is very similar to what should have been produced and the protein may function. Other times, the protein may not be functional. A missense mutation is responsible for sickle cell disease. Click here to read more about this specific case.