Frame shift mutation

The DNA sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health, depending on where they occur and whether they alter the function of essential proteins. The types of mutations include: • Silent mutation: Silent mutations cause a change in the sequence of bases in a DNA molecule, but do not result in a change in the amino acid sequence of a protein (Figure 1). • Missense mutation: This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene (Figure 1). • Nonsense mutation: A nonsense mutation is also a change in one DNA base pair. Instead of substituting one amino acid for another, however, the altered DNA sequence prematurely signals the cell to stop building a protein (Figure 1). This type of mutation results in a shortened protein that may function improperly or not at all. Figure: Some mutations do not change the sequence of amino acids in a protein. Some swap one amino acid for another. Others introduce an early stop codon into the sequence causing the protein to be truncated. • Insertion or Deletion: An insertion changes the number of DNA bases in a gene by adding a piece of DNA. A deletion removes a piece of DNA. Insertions or deletions may be small (one or a few base pairs within a gene) or large (an entire gene, several genes, or a large section of a chromosome). In any of these cases, the protein made by the gene may not function pro...

Technology Networks Ltd. needs the contact information you provide to us to contact you about our products and services. You may unsubscribe from these communications at any time. For information on how to unsubscribe, as well as our privacy practices and commitment to protecting your privacy, check out our The information that is carried by the genetic code provides a set of "instructions" for "building" and "maintaining" a living organism. A useful analogy might be to think of the genetic code being likened to the alphabet. In the alphabet, different letters can be combined to produce useful and meaningful words – but only if the letters are put together in the "correct" way. The same goes for But sometimes biology doesn't stick to the "blueprint plan" when organizing the letters and genetic mutations occur. A genetic mutation is a permanent change to the nucleotide sequence of a gene. More often than not, such genetic mutations are advantageous – they enable evolution and produce new desirable traits in organisms. However, genetic mutations can also be problematic if they result in a disease. In humans, genetic disorders are often life-limiting and incredibly tricky to treat. Not all mutations impact the function of the resulting protein. If you want to build a foundational understanding of genomics in both health and disease, it's important to be able to distinguish between the different type of genetic mutations that can occur. Here, we take a look at some of the muta...

We're sorry, this computer has been flagged for suspicious activity. If you are a member, we ask that you confirm your identity by entering in your email. You will then be sent a link via email to verify your account. If you are not a member or are having any other problems, please contact Thank you for your cooperation

Format: “prefix”“amino_acid”position”new_amino_acid”“fs”“Ter”“position_termination_site”, e.g. p.(Arg123LysfsTer34) “prefix” = reference sequence used = p. “amino_acid” = first amino acid changed = Arg “position” = position = 123 “new_amino_acid” = new amino acid = Lys “fs” = type of change is a frame shift = fs “Ter” = termination codon = Ter / * “position_termination_site” = position new termination site = 34 Note • all variants should be described at the DNA level, descriptions at the RNA and/or protein level may be given in addition • prefix reference sequence accepted is “p.” (protein). • predicted consequences, i.e. without experimental evidence (no RNA or protein sequence analysed), should be given in parentheses, e.g. p.(Arg123LysfsTer34). • for all descriptions the most C-terminal position possible of the reference sequence is arbitrarily assigned to have been changed ( 3’rule) • frame shifts are a special type of amino acid deletion/insertion which, by definition, do not include the deletion from the site of the change to the C-terminal end of the protein (translation termination (stop) codon), like “Arg123_Leu833del”, nor the amino acid sequence inserted. • the description of a frame shift starts with the first new amino acid, this might not be first codon affected by the variant at the DNA level • the position of the translation termination (stop) codon in the new reading frame is calculated starting at the first amino acid changed by the frame shift (codon 1),...

Phenomenon that occurs during translation of a messenger RNA into proteins Ribosomal frameshifting, also known as translational frameshifting or translational recoding, is a biological phenomenon that occurs during Process overview [ ] Proteins are translated by reading tri-nucleotides on the mRNA strand, also known as Sentence example [ ] In this example, the following sentence with three-letter words makes sense when read from the beginning: |Start| THE CAT AND THE MAN ARE FAT ... |Start|123 123 123 123 123 123 123 ... However, if the reading frame is shifted by one letter to between the T and H of the first word (effectively a +1 frameshift when considering the 0 position to be the initial position of T), T|Start|HEC ATA NDT HEM ANA REF AT... -|Start|123 123 123 123 123 123 12... then the sentence reads differently, making no sense. DNA example [ ] In this example, the following sequence is a region of the |Start| AAC GAA AAT CTG TTC GCT TCA ... |Start|123 123 123 123 123 123 123 ... | AA | N E N L F A S ... However, let's change the reading frame by starting one nucleotide downstream (effectively a "+1 frameshift" when considering the 0 position to be the initial position of A): A|Start|ACG AAA ATC TGT TCG CTT CA... -|Start|123 123 123 123 123 123 12... | AA | T K I C S L ... Now, because of this +1 frameshifting, the DNA sequence is read differently. The different codon reading frame therefore yields different amino acids. In the case of a translating ribosome, a fram...

Kelly Biddle Sr. Kelly Biddle, PhD, OP, has taught at both the community college and high school level for over 11 years. After earning degrees in both English and Biochemistry from Rice University in Houston, Texas, she went on to earn her doctorate in Molecular and Environmental Plant Sciences from Texas A&M University. Sr. Kelly has also taught ESL and GED and designed educational computer games. • Instructor Unlike most substitution mutations, which only affect the amino acid where they occur, frameshift mutations affect the reading frame - the way in which nucleotides are clustered in groups of three to make translatable codons. Adding or deleting nucleotides affects the groups of all subsequent nucleotides, meaning they will not be translated into the correct protein sequence. Substitution mutations affect just one amino acid; frameshift mutations affect ALL the amino acids that occur after them. A frameshift mutation is an insertion or deletion mutation that affects the reading frame of the gene, resulting in large numbers of altered amino acids. Inserting or deleting nucleotides from the DNA sequence alters the grouping of subsequent codons in the mRNA sequence, which in turn changes all downstream amino acids. Review of Mutation Types We already know that point mutations can cause changes to an organism. A mutation in DNA alters the mRNA code, which in turn can change what kind of protein is produced. Earlier we saw the effects of base substitutions. We used the e...

Mutation Definition At the simplest level, a mutation is a change or transformation. In biology, mutations refer to changes in chromosomes and genes, which typically manifest physically. The effect of a mutation can depend on the region in which the sequence of genetic material has been changed. The simplest and the most harmless are substitutions of a single base pair with another, with no effect on protein sequence. At the other end are insertion or deletion mutations that lead to non-functional gene products. Mutations can also occur on a large scale, with long stretches of DNA (or RNA when it is the genetic material) being inverted, inserted, duplicated, deleted, transposed or translocated. The result of a mutation could be harmful, beneficial, neutral or even silent. Mutation can lead to the loss or gain of a specific function, to changes to the expression levels, or in extreme cases, even embryonic lethality. Types of Mutation Mutations can be classified in various ways depending on the cause of the mutation, its effect on the function of the gene product or the kind of changes to the structure of the gene itself. Mutagenic agents such as carcinogens or high-energy radiation lead to changes to the genomic material. Some mutations occur as a natural byproduct of the error rate in DNA or RNA replication mechanisms. A mutation could be a loss-of-function or gain-of-function mutation, depending on whether the gene product is inactivated or has enhanced activity. In heter...