Educational Content: This article is for informational purposes only and does not constitute medical advice. Always consult a healthcare provider for diagnosis and treatment.
Definition of Missense mutation
Medically reviewed by Dr. Otari Nergadze, Neurosurgeon | Updated: January 2026
Missense mutation: A genetic change that results in the substitution of one amino acid in protein for another. A missense mutation is responsible for sickle hemoglobin, the molecular basis of sickle cell trait and sickle cell anemia.
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