What is a gene mutation that involves the alteration of a single base pair in DNA called?

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A gene mutation that alters a single base pair in DNA is referred to as a point mutation. This type of mutation can occur in various forms, including substitutions, where one base is swapped for another. Point mutations can lead to changes in the amino acid sequence of proteins, potentially affecting their function, although not all substitutions will result in a change due to the redundancy of the genetic code.

In contrast, deletion and insertion mutations involve the removal or addition of one or more nucleotide bases in the DNA sequence, resulting in a shift in the reading frame of the genetic code, which can lead to more significant changes in the resulting protein. Translocation mutations involve the transfer of a segment of DNA from one location to another within the genome or between chromosomes, which is a more complex alteration affecting larger regions of the DNA and can lead to gene fusions or misregulation. The concise nature of point mutations makes them distinct and important as they can have significant implications for gene expression and protein function without altering large segments of the DNA.

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