Missense variant

Missense variant is a type of mutation that results in a single nucleotide change in the DNA sequence. This change can lead to the production of a different amino acid during protein synthesis, which can alter the function or structure of the protein. Missense variants can have a range of effects on the organism, from benign to harmful.

Causes

Missense variants occur due to errors during DNA replication or due to exposure to certain environmental factors such as radiation or chemicals. These errors can occur randomly or can be inherited from a parent.

Effects

The effects of missense variants can vary widely. Some missense variants may have no noticeable effect on the organism, while others can lead to serious health conditions. The severity of the effect depends on the specific change in the amino acid and its role in the protein.

For example, a missense variant in the BRCA1 gene can lead to the production of a non-functional protein, increasing the risk of breast cancer and ovarian cancer. On the other hand, a missense variant in the HBB gene can result in sickle cell disease, a condition that affects the shape and function of red blood cells.

Detection

Missense variants can be detected through genetic testing. This involves analyzing a sample of DNA to identify any changes in the sequence. Genetic testing can be used to diagnose genetic disorders, determine a person's risk of developing certain diseases, or guide treatment decisions.

Treatment

The treatment for conditions caused by missense variants depends on the specific condition and its severity. Treatment options may include medication, surgery, physical therapy, or lifestyle changes. In some cases, gene therapy may be a potential treatment option.

See also

• Nonsense mutation
• Silent mutation
• Frameshift mutation

Missense variant Resources
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