PATHOLOGY

Detailed explanation-1: -Substitution, as related to genomics, is a type of mutation in which one nucleotide is replaced by a different nucleotide. The term can also refer to the replacement of one amino acid in a protein with a different amino acid.

Detailed explanation-2: -A substitution is a mutation that exchanges one base for another (i.e., a change in a single “chemical letter” such as switching an A to a G). Such a substitution could: change a codon to one that encodes a different amino acid and cause a small change in the protein produced.

Detailed explanation-3: -Base Substitutions Single base substitutions are called point mutations, recall the point mutation Glu—–> Val which causes sickle-cell disease. Point mutations are the most common type of mutation and there are two types.

Detailed explanation-4: -(poynt myoo-TAY-shun) A genetic alteration caused by the substitution of a single nucleotide for another nucleotide.

Detailed explanation-5: -Mutation is a process that causes a permanent change in a DNA sequence. Changes to a gene’s DNA sequence, called mutations, can change the amino acid sequence of the protein it codes for-but they don’t always.