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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.
During protein synthesis, DNA is transcribed into RNA and then translated to produce proteins. Altering nucleotide sequences most often results in nonfunctioning proteins. Mutations cause changes in the genetic code that lead to genetic variation and the potential to develop disease.Gene mutations can be generally categorized into two types: point mutations and base-pair insertions or deletions.Point mutations are the most common type of gene mutation. Also called a base-pair substitution, this type of mutation changes a single nucleotide base pair.utations can also occur in which nucleotide base pairs are inserted into or deleted from the original gene sequence. This type of gene mutation is dangerous because it alters the template from which amino acids are read.