What does “p.F531X” mean if it is contained within a laboratory DNA analysis report?
A. splice-site mutation at position 531 of the genomic nucleotide sequence
B. in-frame deletion of a tryptophan amino acid at amino acid position 531 of the protein
C. substitution of a phenylalanine amino acid by a tryptophan at amino acid position 531 of the protein
D. substitution of a phenylalanine amino acid by a stop codon at amino acid position 531 of the protein
E. in-frame deletion of a phenylalanine amino acid at amino acid position 531 of the protein
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Answer: D. This would be termed a nonsense mutation. See chapter 3 of Essential Medical Genetics 6th edition for further explanations.
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