How do genetic variants affect protein function?

Genetic variants can affect protein function by altering the structure and activity of the proteins they encode.

Genetic variants, also known as mutations, are changes in the DNA sequence that can occur in any part of the genome. These changes can have a significant impact on the function of proteins, which are the workhorses of the cell, carrying out most of the processes that keep cells alive and functioning.

One way genetic variants can affect protein function is by causing a change in the amino acid sequence of the protein. Proteins are made up of chains of amino acids, and the order of these amino acids determines the protein's structure and function. If a genetic variant changes the DNA sequence, it can change the order of the amino acids in the protein, which can alter the protein's structure and potentially its function. This is known as a missense mutation.

Another way genetic variants can affect protein function is by causing a premature stop codon. This is a signal in the DNA sequence that tells the cell to stop making the protein. If a genetic variant introduces a premature stop codon, the protein may be shorter than it should be, which can affect its function. This is known as a nonsense mutation.

Genetic variants can also affect how much of a protein is made. If a variant occurs in a region of the DNA that controls when and how much protein is made, it can result in too much or too little of the protein being produced. This can also affect the function of the protein and the cell.

In summary, genetic variants can affect protein function in several ways, including changing the protein's structure, causing it to be shorter than it should be, or affecting how much of the protein is made. These changes can have significant effects on the function of the cell and the organism as a whole.