Advanced BiologyGene Expression and Regulation

Mutations and Their Effects

Read a mutation's effect from the codon table: silent, missense, nonsense or frameshift. Its effect on the organism depends on where it falls and on the environment, and mutations are the raw material of variation.

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In Mutations you met mutations as changes in DNA. With the codon table and translation in hand, you can predict exactly what a point mutation does to a protein.

Kinds of point mutations, read from the codon table.
KindWhat changesExample (mRNA)
SilentA base changes but the codon still means the same amino acidGGA → GGG: Gly → Gly
MissenseA base change gives a different amino acidGAG → GUG: Glu → Val
NonsenseA base change turns a codon into a stop codonUGG → UGA: Trp → stop
FrameshiftAn insertion or deletion of bases (not a multiple of 3) shifts every codon after itAUG UUC GGA → AUG UCG GA…
The first nine codons of the β-globin mRNA, and the single change (GAG → GUG) that makes sickle-cell hemoglobin. The first Met is removed later, so the changed amino acid is the sixth of the finished chain.

Key idea

Read the effect from the codon table: silent (same amino acid), missense (different amino acid), nonsense (early stop) or frameshift (reading frame shifted). What the change does to the organism depends on where it falls in the protein and on the environment.

Why it works

Why are some mutations harmless? The code is redundant: most amino acids have several codons, often differing only in the third base, so many third-base changes are silent. Missense changes matter most when they hit an active site or swap R-group families (Amino Acid R Groups). Frameshifts and early stops usually wreck the protein. Mutations are also the raw material of variation: without them, natural selection would have nothing new to act on.

Worked examples

Worked example: Classify the change

An mRNA reads AUG UGG CCA UAA. A mutation changes the G at position 6 to A. What kind of mutation is it?
  1. The second codon UGG becomes UGA.
  2. UGG means Trp; UGA is a stop codon.
  3. The protein ends after Met.

Answer: A nonsense mutation.

Worked example: The environment matters

Sickle-cell hemoglobin comes from one missense change (Glu → Val). Two copies of the allele cause sickle cell disease. Why is the allele more common in regions where malaria is common?
  1. People with one copy of the allele are resistant to malaria.
  2. Where malaria is common, that is a survival advantage, so the allele is passed on more often.
  3. Where malaria is absent, there is no such advantage.

Answer: The same allele helps carriers in one environment and not in another: its effect on fitness depends on the environment.

Common mistake

Assuming a mutation has the same effect in every environment. Whether a change helps, harms or does nothing depends on conditions: the sickle-cell allele is the classic case. Also check frameshifts carefully: deleting three bases removes one codon and keeps the frame; deleting one or two shifts everything after it.

Practice

Pass with 3 right answers, the last 2 in a row. Each right answer earns 3 XP.

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Sources and further reading

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