Abstract
Complete deficiency of hypoxanthine guanine phosphoribosyl-transferase causes the Lesch-Nyhan Syndrome (LNS). Partial deficiency of HPRT causes severe, precocious gout. The molecular basis for HPRT deficiency has been determined previously in this laboratory by amino acid sequence analysis in three subjects and by cloning of mutant cDNA sequences in six subjects. In each case a single point mutation resulting in a single amino acid substitution was identified. The structural consequences of these mutations were examined using secondary structure prediction techniques. The mutations in HPRT-London and HPRT-Yale abolish putative β-turns while the mutation in HPRT-Midland predicts an additional β-turn. A sequence predicted to be in random coil structure in HPRT-Munich and HPRT-Ashville is replaced by β-sheet structure and a region of putative β-sheet in HPRT-Ann Arbor is replaced by α-helix. The predicted structural consequences of the mutations in HPRT-Flint, HPRT-Kinston, and HPRT-Toronto were unremarkable using these techniques.
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Davidson, B., Palella, T., Fujimori, S. et al. 27 STRUCTURAL CONSEQUENCES OF POINT MUTATIONS IN NINE HUMAN HPRT VARIANTS. Pediatr Res 24, 115 (1988). https://doi.org/10.1203/00006450-198807000-00051
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DOI: https://doi.org/10.1203/00006450-198807000-00051