Keyword Analysis & Research: missense_variant


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What are missense variants?

Missense variants always result in a different amino acid being produced, but they can have a range of functional implications. For example, missense variants in the gene NF1 result in neurofibromatosis type 1, but not all of them have the same effect: some can result in severe presentation while others are comparatively mild.

What is the difference between a missense and a nonsense mutation?

Like a missense mutation, a nonsense mutation also involves a single alteration to the DNA base pair. However, in the case of a nonsense mutation, this single change results in the production of a stop codon, thereby terminating protein synthesis prematurely. The result? A shortened protein that may function, but also may not.

Are missense variants in human genome sequencing available to the public?

Human genome sequencing efforts have greatly expanded, and a plethora of missense variants identified both in patients and in the general population is now publicly accessible.

What is the difference between adenine and missense mutation?

One of the nucleotides (adenine) is replaced by another nucleotide (cytosine) in the DNA sequence. This results in an incorrect amino acid (proline) being incorporated into the protein sequence. Missense mutation refers to a change in one amino acid in a protein, arising from a point mutation in a single nucleotide.


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