BIOL 206 Lecture Notes - Lecture 15: Protein Structure, Frameshift Mutation, Reading Frame

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List different types of mutations an their effects. Provide examples of genetic diseases caused by mutations. Types of mutations (based on types of molecular change) In some cases can have a phenotypic effect. E. g. speeding up/slowing down protein synthesis or affecting splicing. Protein function may be effected depending on type of change (conversative/nonconservative) & function of amino acid itself. Due to the reading frame of genetic code (3 by 3), any changes can lead to several different outcomes. **the deletion/insertion of bases is not a multiple of 3. Usually introduced premature stop codons and lots of amino acid changes. Mutation in a specific gene refers to a change in the dna coding sequence. This can lead to changes in protein function. Single nucleotide point mutation alters one of 146 aa. Many serious diseases are driven by change in protein structure.

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