ITPA (inosine triphosphate pyrophosphatase): From surveillance of nucleotide pools to human disease and pharmacogenetics

Structural basis for destabilization of human inosine triphosphate pyrophosphatase (ITPA) polymorphic variant Pro32Thr. The cavities in the hydrophobic core (wild-type is red and P32T mutant is blue) are shown relative to the enzyme active site (indicated with the nucleotide position).