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Small-scale mutations. 1  Point mutation â a change in one base in the DNA sequence. 2  Substitution â when one or more bases in the sequence is replaced by the same number of bases (for example, a cytosine substituted for an adenine).3  Inversion â when a segment of a chromosome is reversed end to end.arge-scale mutations. 1  Copy number variation (CNV) is a type of mutation where large chunks of DNA are inserted, repeated or lost. 2  These regions of DNA can be between 10,000 and 5,000,000 bases long. 3  Duplication of genes. 4  When there is an increase in the number of copies of a gene.
One example of a point mutation is Sickle Cell Anemia. A point mutation caused a single nitrogen base in a codon for one amino acid in the protein called glutamic acid to instead code for the amino acid valine. This single small change causes a normally round red blood cell to instead be sickle shaped.