Question

Recognize the diagram and explain the main process indicated in the diagram. Give example.

Answer 1

A point mutation or substitution is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA. Point mutations have a variety of effects on the downstream protein product consequences that are moderately predictable based upon the specifics of the mutation. These consequences can range from benign (e.g. synonymous mutations) to catastrophic (e.g. frameshift mutations), with regard to protein production, composition, and function. In this diagram is shown that there occurs substitution of multiple nucleotides which is also possible.

The most common example of substitution mutation is that of sickle cell anemia where the disease is caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that converts a GAG codon into GUG, which encodes the amino acid valine rather than glutamic acid.