Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow

摘要

We present three novel mutations in the G6PD gene and discuss the changes they cause in the 3-dimensional structure of the enzyme: 573C -> G substitution that predicts Phe to Leu at position 191 in the C-terminus of helix alpha e, 851T -> C mutation which results in the substitution 284Val -> -> Ala in the beta+alpha domain close to the C-terminal part of helix alpha j, and 1175T -> C substitution that predicts Ile to Thr change at position 392.