Zusammenfassung der Ressource
Mutations
- 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
- Chromosomal Mutations