TNBGGA: The No Bullshit Guide to Genetic Analysis

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chapter_08 [2024/11/06 08:11] – mikechapter_08 [2025/03/09 12:05] (current) – [Types of mutations based on DNA alteration] mike
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 |  Missense  |A base change that converts one nucleotide base into another, leading to a change in the amino acid that is incorporated into the protein encoded by the gene. Not all missense mutations have obvious mutant phenotypes; in some cases the amino acid substitution is sufficiently subtle so as not to compromise activity of a protein. Missense mutations that have a marked effect often affect the active site of an enzyme or grossly disrupt protein folding.  | |  Missense  |A base change that converts one nucleotide base into another, leading to a change in the amino acid that is incorporated into the protein encoded by the gene. Not all missense mutations have obvious mutant phenotypes; in some cases the amino acid substitution is sufficiently subtle so as not to compromise activity of a protein. Missense mutations that have a marked effect often affect the active site of an enzyme or grossly disrupt protein folding.  |
 |  Nonsense  |A base change that converts a codon within the coding sequence into a stop codon. Note that there is only a limited set of sense codons that can be converted to a stop codon by a single base change. Nonsense mutations lead to a truncated (shortened) protein product. Nonsense mutations that occur early in the gene sequence will completely inactivate the gene. Sometimes nonsense mutations that occur late in the gene sequence will not disrupt gene function.  | |  Nonsense  |A base change that converts a codon within the coding sequence into a stop codon. Note that there is only a limited set of sense codons that can be converted to a stop codon by a single base change. Nonsense mutations lead to a truncated (shortened) protein product. Nonsense mutations that occur early in the gene sequence will completely inactivate the gene. Sometimes nonsense mutations that occur late in the gene sequence will not disrupt gene function.  |
-|  Indel  |"Indel" is a portmanteau of "insertion and/or deletion"; an indel is the addition or deletion of a base or bases. If the number of bases added or deleted is not a multiple of three, this causes the coding sequence to be shifted out of register; this is called a frameshift mutation. Addition or deletion of a multiple of three bases does not cause a frameshift, and such an indel may or may not affect gene function. After a frameshift mutation is encountered during translation, missense codons will be read up to the first stop codon. Like nonsense mutations, frameshift mutations usually lead to complete inactivation of the gene.  |+|  Indel  |"Indel" is a portmanteau of "insertion and/or deletion"; an indel is the addition or deletion of a base or bases. If the number of bases added or deleted is not a multiple of three, this causes the coding sequence to be shifted out of register; this is called a frameshift mutation. Addition or deletion of a multiple of three bases does not cause a frameshift, and such an indel may or may not affect gene function. After a frameshift mutation is encountered during translation, missense codons will be read up to the first stop codon. Like nonsense mutations, frameshift mutations usually lead to complete inactivation of the gene. Indels created by most chemical mutagens such as proflavine or acridine orange are usually just insertions or deletions of single bases.  |
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chapter_08.1730909512.txt.gz · Last modified: 2024/11/06 08:11 by mike