Question

The severe form of alpha-1 antitrypsin deficiency is the result of a single nucleotide substitution that produces a single amino acid substitution. This is best described as a

A. Frameshift mutation
B. In-frame mutation
C. Missense mutation
D. Nonsense mutation
E. Splice-site mutation

Answer 1

A missense mutation is a type of point mutation that results in the substitution of a single nucleotide, leading to the substitution of one amino acid for another in a protein.

Step-by-step explanation:

A missense mutation is a type of point mutation that results in the substitution of a single nucleotide, leading to the substitution of one amino acid for another in a protein. In the case of severe alpha-1 antitrypsin deficiency, a single nucleotide substitution causes a single amino acid substitution, resulting in a non-functional protein.

For example, sickle-cell disease in humans is caused by a missense mutation that substitutes valine for glutamic acid in a hemoglobin gene, resulting in the production of abnormal hemoglobin and the characteristic sickle-shaped red blood cells.