Mutation, point

What Kind of Doctor Do I Need? Slideshow

Medical Definition of Mutation, point

Mutation, point: A single nucleotide base change in the DNA. A point mutation may consist of the loss of a nucleotide, the insertion of an additional nucleotide, or the substitution of one nucleotide for another.

The first point mutation discovered in humans involved the substitution of one nucleotide for another. It was in sickle hemoglobin, the molecular basis for sickle cell trait and sickle cell anemia. The mutation results in an amino acid change from glutamic acid to valine, from normal adult hemoglobin (hemoglobin A) to sickle hemoglobin (hemoglobin S).


Subscribe to MedicineNet's General Health Newsletter

By clicking Submit, I agree to the MedicineNet's Terms & Conditions & Privacy Policy and understand that I may opt out of MedicineNet's subscriptions at any time.

Reviewed on 9/14/2016

Health Solutions From Our Sponsors