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What single nucleotide change could produce variant 0011, SER549ILE?

Anonymous

wrote...

A month ago

More than 135 allele variants are listed from patients who have been diagnosed with cystic fibrosis (CF). Of these, the most common is variant 0001, the in-frame three base deletion discussed in Chapter 10; this is abbreviated PHE508DEL to indicate the amino acid (PHE), the position (508), and the change in the gene (DEL).

What single nucleotide change could produce variant 0011, SER549ILE?

Choice:
An insertion of a stop codon at position 549
A deletion of the start codon at position 549
A transversion at position two of the codon in position 549
A transition at position two of the codon in position 549

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Anonymous

wrote...

A month ago

Isoleucine is encoded by AU-pyr (or AUA), while serine can be encoded AG-pyr. So if a transversion replaced the G at the second position with a U, isoleucine would replace serine.

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