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Common Genetic Mutations

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Substitution Mutation

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This mutation involves the replacement of one base for another in the DNA sequence, potentially leading to a change in the amino acids and protein produced.

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Duplication Mutation

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This mutation involves the repetition of a section of DNA, which can lead to additional copies of the encoded region in the protein, potentially affecting gene function.

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Inversion Mutation

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A segment of DNA is reversed end to end, which may or may not affect the function of the gene, depending on whether it disrupts the coding sequence or regulatory regions.

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Deletion Mutation

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Involves the loss of one or more base pairs in the DNA sequence, which, like insertion mutations, can cause a frameshift and result in a malfunctioning protein.

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Missense Mutation

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This mutation is a type of substitution that changes a single amino acid in a protein, which may affect the protein’s function.

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Insertion Mutation

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A type of mutation where additional base pairs are inserted into the DNA sequence, which can cause a frameshift and alter the reading frame of the gene.

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Nonsense Mutation

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A variant of a substitution mutation that results in a premature stop codon, terminating the translation process and typically leading to a shorter, nonfunctional protein.

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Silent Mutation

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A form of substitution mutation that does not change the amino acid sequence of the protein due to the redundancy of the genetic code.

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Frameshift Mutation

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Caused by insertions or deletions that are not in multiples of three, this mutation alters the reading frame of the gene, potentially leading to widespread changes in the amino acid sequence downstream from the mutation.

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Translocation Mutation

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Occurs when a segment of DNA from one chromosome is abnormally exchanged with another chromosome, which can disrupt gene function and lead to diseases like cancer.

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