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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.
Mutations are defined as random changes in cellular DNA. They change the genetic code for amino acid sequence in proteins, thus introducing biochemical errors of varying degrees of severity. Mutations have been classified as deletions (loss of DNA bases), insertions (gain of DNA bases), and missense or nonsense (substitution of a DNA base). If the mutations affect germ cells (female ova and male spermatozoa), they will be passed to all the cells of the offspring, and affect future generations. Such mutations are called âgermline mutations,â and are the cause of inherited diseases.