Biology 2581B Study Guide - Haploinsufficiency, Zygosity, Antirrhinum

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Recall that mutations happen on the dna level, but then can affect the rna sequence and final protein product. Given a wildtype sequence, base substitution changes can alter the codon on an rna level, but at the protein level, no effect on the protein"s function or polypeptide sequence is observed. This is because the redundancy in the 4 possible codons encoding for alanine differ only in the third nucleotide (wobble position). If a change occurs here, then a silent mutation results. Note that methionine is specific (has only one possible codon), making silent mutations impossible. If a base substitution produces missense mutation (an amino acid that is similar in nature to the originally predicted one), little or no effect on the protein product results. However a missense mutation in amino acid codons at crucial positions can have a large effect on protein function.

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