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Point mutations involve an alteration in a single base pair.
They include silent mutations, which cause no change in the amino acid sequence and protein function. For example, a change from ACC to ACA would still translate to the amino acid threonine.
Missense mutations alter a single amino acid in a protein. For example, a mutation in TCC, which codes for serine, can give TGC, which codes for cysteine.
Nonsense mutations result in protein truncation and inactivation by converting a codon into a stop codon.
Nucleotide insertions or deletions cause frameshift mutations.
Single-base insertions or deletions cause frameshifts that disrupt protein structure, while multiple-base insertions or deletions may alter protein function by modifying amino acid sequences.
Larger insertions or deletions may cause gene loss, which is often lethal when essential genes are affected.
Point mutations can be corrected by reversion mutations, which restore the original sequence, or by suppressor mutations, which introduce a second change at a different site. These don’t reverse the original mutation but offset it and restore function.
Puntmutaties zijn genetische veranderingen waarbij één enkel nucleotidebasenpaar in het DNA wordt gewijzigd. Afhankelijk van hoe deze verandering de e…
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