CYP209 . ray encodes for a P450 2C9 soenzyme, which normally acts to inhibit war
ID: 148186 • Letter: C
Question
CYP209 . ray encodes for a P450 2C9 soenzyme, which normally acts to inhibit warfarin s anti-clotting properties. es are enzymes which differ in amino acid sequence, but catalyze the same reaction. This gene is found on romosome 10. Two variants, CYP2C9-2 and CYP2C9*3, cause this enzyme to not function optimally, which in turn influences how readily warfarin is metabolized. For someone with either of these variants, warfarin is metabolized much slower and stays in the body longer. Therefore, individuals with the CYP2C9*2 or *3 variants need less warfarin than individuals that do not have these variants, but have variant CYP2C9.1 The P209-2 variant is found in exon 3. The normal nucleotide at this position is a C. The "2 variant has a T at this same position and results in a 30-40% decrease in enzyme activity. Genomic sequence with C variant: ATT GAG GAC CGT GTT CAA GAG Genomic sequence with T variant: ATT GAG GAC TGT GTT CAA GAG 4. Translate each variant. C variant T variant 5. What type of mutation is this? 6. Hypothesize why the T variant would result in a 30-40% decrease in enzyme activity.
Explanation / Answer
The type of mutation here is transition point mutation
Explanation: Transition refers to a point mutation that changes a purine nucleotide to another purine (A G), or a pyrimidine nucleotide to another pyrimidine (C T).