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One silent mutation causes the dopamine receptor D2 gene to be less stable and degrade faster, underexpressing the gene. A silent mutation in the multidrug resistance gene 1 , which codes for a cellular membrane pump that expels drugs from the cell, can slow down translation in a specific location to allow the peptide chain to bend into an ...
Point substitution mutations of a codon, classified by their impact on protein sequence. A synonymous substitution (often called a silent substitution though they are not always silent) is the evolutionary substitution of one base for another in an exon of a gene coding for a protein, such that the produced amino acid sequence is not modified.
An example would be a seemingly silent mutation in the multidrug resistance gene 1 , which codes for a cellular membrane pump that expels drugs from the cell, can slow down translation and allow the peptide chain to fold into an unusual conformation, causing the mutant pump to be less functional (in MDR1 protein e.g. C1236T polymorphism changes ...
A nonsynonymous substitution is a nucleotide mutation that alters the amino acid sequence of a protein.Nonsynonymous substitutions differ from synonymous substitutions, which do not alter amino acid sequences and are (sometimes) silent mutations.
A nucleotide substitution at a 4-fold degenerate site is always a synonymous mutation with no change on the amino acid. [2]: 521–522 A less degenerate site would produce a nonsynonymous mutation on some of the substitutions. An example (and the only) 3-fold degenerate site is the third position of an isoleucine codon.
Hermann J. Muller (1890–1967), who was a 1946 Nobel Prize winner, coined the terms amorph, hypomorph, hypermorph, antimorph and neomorph to classify mutations based on their behaviour in various genetic situations, as well as gene interaction between themselves. [1] These classifications are still widely used in Drosophila genetics to ...
There are several methods, or forms, of mutation that exist including spontaneous mutation, errors during replication and repair, as well as mutation due to environmental effects. [8] These origins of mutations can cause many different types of mutations which influence gene expression on both large and small scales.
A mutation may, or may not, be passed on to off-spring (e.g. if is a mutation that happens in some replicating cells that are not part of the germline, none of the off-spring will bear the mutation. For example, a mutation may occur in a skin cell as a result of ultraviolet light resulting in a thiamine dimer which is not properly repaired ...