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EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 1.3.1.1more mutation IVS14+1G>A results in a 165bp deletion (corresponding to exon 14) in the DPD mRNA, the resulting protein product is truncated by 55 amino acids, and its catalytic activity is virtually absent, the mutation is responsible for a significant proportion of life-threatening toxicity of 5-fluorouracil 689372
Display the word mapDisplay the reaction diagram Show all sequences 1.3.1.1more the splice-site polymorphism IVS14+1G>A results in severe DPD deficiency with absent DPD activity 687190
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