Mutations

Mutations

1. Gene Mutations

   • Nucleotide Substitutions
     • Missense Mutation
       • 1. Changes mRNA codon
         • 2. Translation of different amino acid
           • 3. Change in the specific 3D conformation of protein
             • 4. Function of protein is altered
       • Sickle Cell Anemia
         • Mutation in β-globin gene
           • Substitution: A→ T in Hb gene
             • Results in missense mutation
           • Glutamate changed to valine
     • Nonsense Mutation
     • Silent Mutation
     • Neutral Mutation
   • Nucleotide Insertions/Deletions

2. Chromosomal Mutations