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Point mutation information


Point mutations of a codon, classified by their impact on protein sequence
Schematic of a single-stranded RNA molecule illustrating a series of three-base codons. Each three-nucleotide codon corresponds to an amino acid when translated to protein. When one of these codons is changed by a point mutation, the corresponding amino acid of the protein is changed.
A to G point mutation detected with Sanger sequencing

A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome.[1] 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.

  1. ^ "Point Mutation". Biology Dictionary. 22 November 2016. Retrieved 17 May 2019.

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Point mutation

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A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome...

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Point accepted mutation

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A point accepted mutation — also known as a PAM — is the replacement of a single amino acid in the primary structure of a protein with another single...

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Mutation

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In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain...

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Nonsense mutation

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In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a nonsense codon, or a premature stop codon in the transcribed...

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Missense mutation

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In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is...

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Mutation rate

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single type of mutation; there are many different types of mutations. Mutation rates are given for specific classes of mutations. Point mutations are a class...

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Germline mutation

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germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations in...

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Frameshift mutation

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A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number...

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Stop codon

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codons. A nonstop mutation, also called a stop-loss variant, is a point mutation that occurs within a stop codon. Nonstop mutations cause the continued...

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Endometrial cancer

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mutations in this gene. Type I and Type II cancers (explained below) tend to have different mutations involved. ARID1A, which often carries a point mutation...

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Progerin

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sporadic single point nucleotide polymorphism c.1824 C>T (GGC -> GGT, p.Gly608Gly) in the gene that codes for matured Lamin A. This mutation activates a cryptic...

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Coding region

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nonsense mutations, where base alterations in the coding region code for a premature stop codon, producing a shorter final protein. Point mutations, or single...

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Silent mutation

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Silent mutations are mutations in DNA that do not have an observable effect on the organism's phenotype. They are a specific type of neutral mutation. The...

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Dibucaine number

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number is used to differentiate individuals who have substitution mutations (point mutations) of the enzyme's gene, resulting in decreased enzyme function...

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Microsatellite

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thousands of locations within an organism's genome. They have a higher mutation rate than other areas of DNA leading to high genetic diversity. Microsatellites...

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Point

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of a political position Point mutation, a change in a single nucleotide Take point (or walk point, be on point, or be a point man), to be the lead, and...

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TATA box

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sequence and mechanism of TATA box initiation, mutations such as insertions, deletions, and point mutations to this consensus sequence can result in phenotypic...

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Polydactyl cat

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form of the Hemingway (Hw) mutant the variation is induced by a single point mutation in a noncoding cis-regulatory element for SHH. In an extensive phenotypic...

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Transversion

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Transversion, in molecular biology, refers to a point mutation in DNA in which a single (two ring) purine (A or G) is changed for a (one ring) pyrimidine...

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Ovarian cancer

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About 10% of cases are related to inherited genetic risk; women with mutations in the genes BRCA1 or BRCA2 have about a 50% chance of developing the...

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Inverted repeat

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creates a point mutation converting the GCA codon to ACA. If the strand switch event is followed by a second round of DNA replication, the mutation may become...

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Pinot blanc

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grape. It is a point genetic mutation of Pinot noir. Pinot noir is genetically unstable and will occasionally experience a point mutation in which a vine...

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Maine Coon

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(2014) Biased polyphenism in polydactylous cats carrying a single point mutation: the Hemingway model for of digit novelty. Evolutionary Biology, 41...

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Splice site mutation

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A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place...

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MERRF syndrome

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this point mutation. This point mutation disrupts the mitochondrial gene for tRNA-Lys. This disrupts the synthesis of proteins. The remaining mutations only...

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Indel

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Indels can be contrasted with a point mutation. An indel inserts or deletes nucleotides from a sequence, while a point mutation is a form of substitution that...

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