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  2. Missense mutation - Wikipedia

    en.wikipedia.org/wiki/Missense_mutation

    Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations, in which a codon is changed to a premature stop codon that results in truncation of the resulting protein, and the nonstop mutations, in which a stop codon erasement results in a longer ...

  3. Amino acid replacement - Wikipedia

    en.wikipedia.org/wiki/Amino_acid_replacement

    Amino acid replacement is a change from one amino acid to a different amino acid in a protein due to point mutation in the corresponding DNA sequence. It is caused by nonsynonymous missense mutation which changes the codon sequence to code other amino acid instead of the original. Notable mutations

  4. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    An important group of SNPs are those that corresponds to missense mutations causing amino acid change on protein level. Point mutation of particular residue can have different effect on protein function (from no effect to complete disruption its function). Usually, change in amino acids with similar size and physico-chemical properties (e.g ...

  5. Point accepted mutation - Wikipedia

    en.wikipedia.org/wiki/Point_accepted_mutation

    The missense mutations may be classed as point accepted mutations if the mutated protein is not rejected by natural selection. A point accepted mutation — also known as a PAM — is the replacement of a single amino acid in the primary structure of a protein with another single amino acid, which is accepted by the processes of natural selection.

  6. Nonsynonymous substitution - Wikipedia

    en.wikipedia.org/wiki/Nonsynonymous_substitution

    Nonsense mutations are nonsynonymous substitutions that arise when a mutation in the DNA sequence causes a protein to terminate prematurely by changing the original amino acid to a stop codon. Another type of mutation that deals with stop codons is known as a nonstop mutation or readthrough mutation, which occurs when a stop codon is exchanged ...

  7. Genetic code - Wikipedia

    en.wikipedia.org/wiki/Genetic_code

    Missense mutations and nonsense mutations are examples of point mutations that can cause genetic diseases such as sickle-cell disease and thalassemia respectively. [ 38 ] [ 39 ] [ 40 ] Clinically important missense mutations generally change the properties of the coded amino acid residue among basic, acidic, polar or non-polar states, whereas ...

  8. Mutation rate - Wikipedia

    en.wikipedia.org/wiki/Mutation_rate

    The human germline mutation rate is approximately 0.5×10 −9 per basepair per year. [1] In genetics, the mutation rate is the frequency of new mutations in a single gene, nucleotide sequence, or organism over time. [2] Mutation rates are not constant and are not limited to a single type of mutation; there are many different types of mutations.

  9. Point mutation - Wikipedia

    en.wikipedia.org/wiki/Point_mutation

    In molecular biology, repeat-induced point mutation or RIP is a process by which DNA accumulates G:C to A:T transition mutations. Genomic evidence indicates that RIP occurs or has occurred in a variety of fungi [ 20 ] while experimental evidence indicates that RIP is active in Neurospora crassa , [ 21 ] Podospora anserina , [ 22 ] Magnaporthe ...