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Types of Genetic Mutations

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Nonsense Mutation

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A point mutation that converts a codon encoding an amino acid into a stop codon, leading to premature termination of translation. Often results in nonfunctional protein.

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Insertion Mutation

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The addition of one or more nucleotide bases into a DNA sequence, which can result in a frameshift mutation if not in multiples of three or can affect protein function if within a gene.

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Missense Mutation

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A point mutation that results in the change of one amino acid to another in a protein. Can affect the protein function, depending on the importance of the altered amino acid.

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Frameshift Mutation

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Caused by insertions or deletions of nucleotides that are not in multiples of three, thereby altering the reading frame of the gene. Can result in a completely different amino acid sequence and usually leads to nonfunctional proteins.

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Deletion Mutation

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The loss of one or more nucleotide bases from a DNA sequence, which can lead to a frameshift mutation if not in multiples of three and can have severe effects if it occurs in an essential region of the gene.

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Translocation Mutation

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Occurs when a segment of DNA is moved from one chromosome to another, which can create fusion genes, disrupt gene function, or affect gene regulation, potentially leading to diseases like cancer.

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Splice Site Mutation

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A mutation occurring in the splicing sites of mRNA, potentially causing abnormal mRNA splicing and leading to an altered or truncated protein product.

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Point Mutation

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A mutation where a single nucleotide base is changed, inserted, or deleted. Potentially alters a single amino acid in a protein or could produce a premature stop codon.

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Inversion Mutation

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A segment of DNA is reversed within the chromosome. May not directly affect protein function if it does not disrupt a coding sequence, but can have effects on gene expression and regulation.

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Duplication Mutation

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A segment of DNA is copied one or more times, leading to multiple copies of the DNA segment. Can result in an abnormal protein if it occurs within a gene, potentially contributing to genetic disorders.

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Silent Mutation

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A point mutation that occurs in the DNA sequence but does not change the amino acid sequence of the encoded protein due to the redundancy of the genetic code.

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Copy Number Variation

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A type of structural variation where the number of copies of a particular gene varies between individuals in the population. Can increase susceptibility to diseases or affect drug response.

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