A gene (point) mutation is a change in the nucleotide sequence of a single gene, affecting one or a few base pairs. Its main types are substitution (one base replaced by another), insertion (bases added) and deletion (bases lost).
A substitution changes one codon: it may be silent (same amino acid, because the code is degenerate), missense (a different amino acid) or nonsense (a stop codon, giving a shortened protein). Inserting or deleting a number of bases not divisible by three shifts the reading frame, so every later codon is misread (a frameshift) and the protein is usually useless.
Example: in sickle-cell anaemia a substitution in the β-globin gene changes the mRNA codon GAG to GUG, so valine replaces glutamic acid at position 6. The haemoglobin (HbS) clumps at low oxygen and red cells become sickle-shaped. It is autosomal recessive.
Marking: 1 point for the definition (a change in the nucleotide sequence of one gene); 1 point for naming substitution, insertion and deletion; 1 point for the effect of a substitution (silent, missense or nonsense, at least two named); 1 point for explaining the frameshift caused by an insertion or deletion; 1 point for a correct example, such as sickle-cell anaemia or cystic fibrosis (most often a deletion of three bases that removes one phenylalanine from the CFTR protein), with the change it causes.