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A frameshift mutation can drastically change the coding capacity (genetic information) of the message. [1] Small insertions or deletions (those less than 20 base pairs) make up 24% of mutations that manifest in currently recognized genetic disease. [10] Frameshift mutations are found to be more common in repeat regions of DNA.
This is a graphical representation of the HIV1 frameshift signal. A −1 frameshift in the slippery sequence region results in translation of the pol instead of the gag protein-coding region, or open reading frame (ORF). Both gag and pol proteins are required for reverse transcriptase, which is essential to HIV1 replication.
Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes, [1] through ways like a stop-gain mutation. [2] [3] [4] [5 ...
A frameshift mutation is caused by insertion or deletion of a number of nucleotides that is not evenly divisible ... Conditional mutation is a mutation that has ...
Frameshift mutations will alter all the amino acids encoded by the gene following the mutation. Usually, insertions and the subsequent frameshift mutation will cause the active translation of the gene to encounter a premature stop codon , resulting in an end to translation and the production of a truncated protein.
Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation. These consequences can range from no effect (e.g. synonymous mutations) to deleterious effects (e.g. frameshift mutations), with regard to protein production, composition, and function.
However, frameshift mutations often lead to the translation of an out-of-frame PTC that can activate NMD to degrade these mutant mRNAs before they are translated into proteins, thereby reducing the presentation of these potentially immunogenic peptides on the cell surface via HLA class I molecules.
Deleterious mutation: The change is proven to cause significant risks. Often, these are frameshift mutations that prevent the cell from producing more than the first part of the necessary protein. Suspected deleterious: While nothing is proven, the variation is currently believed to be harmful.