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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.
The most common CFTR mutation is a deletion of just three DNA nucleotides, which leads to the deletion of an amino acid (phenylalanine) at position 508 of the protein sequence.This is denoted as Î´F508, and is found in around 90% of CF patients.uick Quiz. Different mutations in the same gene may cause different phenotypes (clinical outcomes) because. A. Some types of mutation affect the size of a protein chain. B. Some types of mutations affect the amount of protein made. C. Some types of mutations affect the functionality of a protein made.