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missense mutation

   Also found in: Encyclopedia, Wikipedia 0.01 sec.
missense mutation
n.
A mutation in which a base change or substitution results in a codon that causes insertion of a different amino acid into the growing polypeptide chain, giving rise to an altered protein.


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Rachel Karchin, an assistant professor of biomedical engineering, and doctoral student Hannah Carter have revealed that the new process focuses on missense mutations, meaning protein sequences that each possess a single tiny variation from the normal pattern.
This causes a missense mutation in which a G-C pair is replaced by an A-T pair after replication.
Genetic analysis demonstrated the presence of a novel, causative, de novo missense mutation in the cardiac ryanodine receptor gene (RyR2: p.
 
 
 
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