Point mutation

How it is used

Used in genetics, cancer research and protein engineering. Point mutations can be silent (no change in the protein), missense (one amino acid changes) or nonsense (an early stop codon appears). Researchers 'introduce' a point mutation by site-directed mutagenesis.

Example sentences

1. Sickle cell disease is caused by a point mutation in the beta-globin gene.

2. We introduced a point mutation to remove the phosphorylation site.

Common collocations

• introduce a point mutation
• missense mutation
• nonsense mutation
• single point mutation

Related terms

• mutationA permanent change in the DNA sequence. It may have no effect, cause disease or, occasionally, give an advantage.
• SNPSingle nucleotide polymorphism: a position in the genome where people commonly differ by one base. SNPs are the most common type of genetic variation.
• codonA sequence of three bases in DNA or mRNA that codes for one amino acid or signals the start or end of protein building.
• frameshift mutationA mutation that adds or removes a number of bases that is not a multiple of three, which shifts the way codons are read and usually produces a faulty, shortened protein.

More terms: Mutations and Genetic Variation

• variant
• deletion
• somatic mutation
• germline
• pathogenic
• copy number variation