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FineLookingAquamarine248

Uploaded by FineLookingAquamarine248

London South Bank University

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mutation genetic disorders medical genetics

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# Types of Mutation ## Overview of Mutations 1. **No change to encoded amino acid sequence** 2. **Single change to encoded amino acid sequence** 3. **Translate 'STOP' codon, leading to truncation of amino acid sequence** 4. **Change in encoded amino acid sequences at point of mutation leading to fo...

# Types of Mutation ## Overview of Mutations 1. **No change to encoded amino acid sequence** 2. **Single change to encoded amino acid sequence** 3. **Translate 'STOP' codon, leading to truncation of amino acid sequence** 4. **Change in encoded amino acid sequences at point of mutation leading to formation of different codons** --- # Medical Condition ## Single Gene Change - **Huntington's Disease** - Mutation in Huntington Gene [HTT] - ![Image: Huntington's Scan](link) - **Cystic Fibrosis** - Mutation of both copies of CF Transmembrane Conductance Regulator [CFTR] - ![Image: Cystic Fibrosis X-ray](link) - **Achondroplasia** - Mutation of Fibroblast Growth Factor Receptor 3 [FGFR3] - ![Image: Image Source from HBO](link) --- > *Note: Images referenced above are not displayed in this format.*

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