𧬠DNA β mRNA β Protein
Mutated DNA, base pairs 8β31 of 96 Β· AβT (2 H-bonds) Β· GβC (3 H-bonds) Β· click a base pair to choose it
Original
MetValHisLeuThrProGluGluLysSerAlaValThrAlaLeuTrpGlyLysValAsnValAspGluValGlyGlyGluAlaLeuGlyArg
Mutant
MetValHisLeuThrProValGluLysSerAlaValThrAlaLeuTrpGlyLysValAsnValAspGluValGlyGlyGluAlaLeuGlyArg
Result: missense
- Gene
- Human Ξ²-globin (HBB), start
- Codon changed
- 7
- Protein length
- 31 β 31 aa
- Stop codon
- found
- Silent β the codon changes but codes for the same amino acid (the code is redundant: 61 codons, 20 amino acids).
- Missense β one amino acid swaps. In sickle-cell disease, Glu6Val makes haemoglobin stick together when oxygen is low, bending red cells into sickles.
- Nonsense β a premature stop; the protein is cut short (often destroyed by nonsense-mediated decay).
- Frameshift β inserting or deleting a base not in multiples of 3 shifts every codon after it.