AP BIOLOGY

Detailed explanation-1: -A genetic alteration in which a single base pair substitution alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense variants (or mutations) will alter the function of the protein.

Detailed explanation-2: -Missense mutations occur when a single nucleotide base in a DNA sequence is swapped for another one, resulting in a different codon and, therefore, a different amino acid. These mutations are quite common and, in most cases, they don’t affect the overall shape and function of the protein.

Detailed explanation-3: -Missense mutations can affect DNA-transcription factors resulting in altering the expression of the corresponding protein. Altering the wild-type protein expression in the compartment where it is designed to function will disrupt the normal cell cycle and in turn may cause diseases [20].

Detailed explanation-4: -If the mutation results in a change of one aminoacid, it is a missense mutation, no matter if it was result of a frameshift or point mutation.

Detailed explanation-5: -Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such as Epidermolysis bullosa, sickle-cell disease, SOD1 mediated ALS, and a substantial number of cancers.