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What is point mutation. Explain with …

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What is point mutation. Explain with example.

    • Posted by Mahek Patel 4 years, 1 month ago

    CBSE > Class 12 > Biology
    • 1 answers

    Sia ? 4 years, 1 month ago

    Point mutation is the mutation that affects a single nucleotide or nucleic acid. It commonly occurs when one base is substituted for the other. It may also result due to insertion and deletion of a single base pair. 

    Examples of point mutation are:

    • Cystic fibrosis: It occurs due to the deletion of three nucleotides in the CFTR gene. In this, an amino acid phenylalanine is lost which causes misfolding of protein.
    • Sickle cell anemia: It is caused by single point mutation in the beta haemoglobin gene. This results in the conversion of GAG codon into GUG that encodes amino acid valine.

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