title: Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.
abstract: 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.
authors: Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland.
authors: Monika
authors: M
authors: Maciag
authors: Danuta
authors: D
authors: Plochocka
authors: Ewa
authors: E
authors: Jablonska-Skwiecinska
authors: Ewa
authors: E
authors: Mendek-Czajkowska
authors: Ewa
authors: E
authors: Golaszewska
authors: Wojciech
authors: W
authors: Strojny
authors: Walentyna
authors: W
authors: Balwierz
authors: Ewa
authors: E
authors: Zdebska
authors: Beata
authors: B
authors: Burzynska
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D006461:Hemolysis / Q000235:genetics*; D006801:Humans; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011487:Protein Conformation
chemical_list: D005954:Glucosephosphate Dehydrogenase