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Frameshift mutations are known to be a factor in colorectal cancer as well as other cancers with microsatellite instability. As stated previously, frameshift mutations are more likely to occur in a region of repeat sequence. When DNA mismatch repair does not fix the addition or deletion of bases, these mutations are more likely to be pathogenic.
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.
A silent mutation does not affect the functioning of the protein. A single nucleotide can change, but the new codon specifies the same amino acid, resulting in an unmutated protein. This type of change is called synonymous change since the old and new codon code for the same amino acid. This is possible because 64 codons specify only 20 amino ...
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.
Deletions that do not occur in multiples of three bases can cause a frameshift by changing the 3-nucleotide protein reading frame of the genetic sequence. Deletions are representative of eukaryotic organisms, including humans and not in prokaryotic organisms, such as bacteria.
Protein-truncating variants (PTVs) ... PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), ...
Wise2 - aligns a protein against a DNA sequence allowing frameshifts and introns FastY - compare a DNA sequence to a protein sequence database, allowing gaps and frameshifts Path Archived 2011-07-19 at the Wayback Machine - tool that compares two frameshift proteins (back- translation principle)
Individuals suffering from Progressive Myoclonus Epilepsy possess a mutated form of this gene, which results in decreased output of mature mRNA, and subsequently decreases in protein expression. A study has also shown that a type of Childhood Absence Epilepsy (CAE) causing febrile seizures may be linked to a splice site mutation in the sixth ...