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Talking Glossary of Genetic Terms

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Christopher P. Austin, M.D. defines Missense Mutation

Missense Mutation

mis SENS myoo TEY shuhn

A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein. This amino acid substitution may have no effect, or it may render the protein nonfunctional.

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Missense Mutation

A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein. This amino acid substitution may have no effect, or it may render the protein nonfunctional.

Narration Transcription

A missense mutation is a mistake in the DNA which results in the wrong amino acid being incorporated into a protein because of change, that single DNA sequence change, results in a different amino acid codon which the ribosome recognizes. Changes in amino acid can be very important in the function of a protein. But sometimes they make no difference at all, or very little difference. Sometimes missense mutations cause amino acids to be incorporated, which make the protein more effective in doing its job. More frequently, it causes the protein to be less effective in doing its job. But this is really the grist of evolution, when missense mutations happen, and therefore small changes, frequently small changes in proteins, happen, and it happens to be that it improves the function of a protein. That will sometimes give the organism that has it a competitive advantage over its colleagues and be maintained in the population.


Doctor Profile

Christopher P. Austin, M.D.

Christopher P. Austin, M.D.

Occupation
Director, NIH Chemical Genomics Center (NCGC); Senior Advisor for Translational Research, Office of the Director

Biography
Dr. Austin's research focuses on development of reagents and technologies to translate genome sequence into functional insights. As director of the NIH Chemical Genomics Center (NCGC), part of a network of screening centers that produce chemical probes for use in biological research and drug development, Dr. Austin is spearheading a chemical genomics program that brings the power of small-molecule chemistry and informatics to the elucidation of gene function. Just as the Human Genome Project accelerated gene identification, this initiative promises to speed discoveries on gene function and lead to the development of new therapies for human disease.

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