Individuals
who have brain creatine deficiency display intellectual disability. Sequencing
of exons in such individuals revealed that the brain creatine deficiency is
linked to an inborn genetic defect: such individuals are homozygous for a G→A
transition at nucleotide position 9297 within exon 9 of the gene
encoding AGAT (see Figure below). Which of
the following options provides the best explanation for why this mutation
causes disease?

Question

Individuals
who have brain creatine deficiency display intellectual disability. Sequencing
of exons in such individuals revealed that the brain creatine deficiency is
linked to an inborn genetic defect: such individuals are homozygous for a G→A
transition at nucleotide  position 9297  within exon 9 of the gene
encoding AGAT (see Figure below). Which of
the following options provides the best explanation for why this mutation
causes disease?

Accepted Answer

This mutation replaces a tryptophan codon with a stop codon, resulting in a truncated protein

Answer

This mutation replaces a tryptophan codon with a start codon, resulting in expression of two different AGAT forms

Answer

This mutation results in the substitution of the active-site Lys with Arg, abolishing substrate binding to AGAT

Answer

This mutation results in the substitution of the catalytic Asp with Glu, yielding an inactive AGAT mutant

Crowdly

Individuals who have brain creatine deficiency display intellectual disability....

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