Keyword Analysis & Research: definition of missense mutation in biology


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What does missense mutation mean and how is it caused?

The missense mutation which causes all of this is the difference of one nucleotide. It is first translated into mRNA, then into a protein. The missense mutation causes a valine to be placed where a glutamic acid normally goes. This non-conservative missense mutation causes the shape of the protein, hemoglobin, to change.

What does a missense mutation look like?

Nonsense Mutation A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid. The presence of this premature stop codon results in the production of a shortened, and likely nonfunctional, protein.

What is a missense variant?

The missense variant of the beta-hemoglobin protein leads to misshapen blood cells that are unable to efficiently transport oxygen. Due to this, individuals with sickle-cell anemia become winded during even the simplest activities.


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