Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.
Copyright policy )Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.
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 alphae, 851T-->C mutation which results in the substitution 284Val--> -->Ala in the beta+alpha domain close to the C-terminal part of helix alphaj, and 1175T-->C substitution that predicts Ile to Thr change at position 392.
- Polish Academy of Learning Poland
- Jagiellonian University Poland
Adult, Male, Models, Molecular, molecular modeling, Protein Conformation, Mutation, Missense, Glucosephosphate Dehydrogenase, Hemolysis, Polymerase Chain Reaction, G6PD deficiency, Child, Preschool, Humans, Female, Child
Adult, Male, Models, Molecular, molecular modeling, Protein Conformation, Mutation, Missense, Glucosephosphate Dehydrogenase, Hemolysis, Polymerase Chain Reaction, G6PD deficiency, Child, Preschool, Humans, Female, Child
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