Health condition
Sickle cell disease
An inherited blood disorder caused by a variant in the HBB gene that changes one amino acid in hemoglobin.
Mutation
A change in a DNA sequence. Mutations arise from copying errors or damage, and their effects range from none at all to disease.Source: NHGRISource: MedlinePlus
Also called variant.
Process
How Mutation connects
Mutation can cause
Health condition
Cystic fibrosis
An inherited condition caused by variants in the CFTR gene, in which thick mucus damages the lungs, digestive system and other organs.
Mutation can be caused by
Molecule
Transposable elements
Stretches of DNA that can move to new places in the genome, first described by Barbara McClintock in maize.
Mutation makes possible
Process
Evolution
The process by which living things change over generations through changes in their genomes.
Mutation is related to
Level of life
DNA
The molecule that stores the genetic instructions of all cellular life: two strands wound into a double helix and held together by base pairs.
Process
Evolution
The process by which living things change over generations through changes in their genomes.
Idea or model
Human genetic variation
Differences in DNA between people. A 2015 study reconstructed the genomes of 2,504 people from 26 populations.
Your progress
Sources & further reading
The explanations on this page are our own summaries of these sources. Follow a link to read the original; if anything here disagrees with it, the original wins. How we choose and check sources.
Mutation (opens the original in a new tab)
National Human Genome Research Institute. Talking Glossary of Genomic and Genetic Terms. National Human Genome Research Institute, NIH.
ReferenceGovernment sourceEducationalWhat kinds of gene variants are possible? (opens the original in a new tab)
MedlinePlus Genetics. MedlinePlus Genetics. U.S. National Library of Medicine, NIH.
ReferenceGovernment sourceEducational