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12 Oct 2018
Consider two actual DNA mutations found as 2 PAH mutant alleles.
Mutation # 0017 changes codon 414 from a tyrosine to a cysteine (TYR414CYS). A homozygous genotype leads to HPA. Indicate the type of mutation for 0017at the DNA level. Identify the class of mutation at the protein level. Based on the disease phenotype, would you expect the mutated protein to be partially functional or non-functional? Explain your reasoning briefly
Mutation #0018 is a mutation that changes the splice site of intron 4 (IVS4). Explain the consequence of mutation 0018 at the level of transcription of the gene, splicing and protein synthesis. Homozygous 0018 leads to PKU phenotype
Consider two actual DNA mutations found as 2 PAH mutant alleles.
Mutation # 0017 changes codon 414 from a tyrosine to a cysteine (TYR414CYS). A homozygous genotype leads to HPA. Indicate the type of mutation for 0017at the DNA level. Identify the class of mutation at the protein level. Based on the disease phenotype, would you expect the mutated protein to be partially functional or non-functional? Explain your reasoning briefly
Mutation #0018 is a mutation that changes the splice site of intron 4 (IVS4). Explain the consequence of mutation 0018 at the level of transcription of the gene, splicing and protein synthesis. Homozygous 0018 leads to PKU phenotype
Deanna HettingerLv2
15 Oct 2018
