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.
Maciag
Monika
M
Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland.
Plochocka
Danuta
D
Jablonska-Skwiecinska
Ewa
E
Mendek-Czajkowska
Ewa
E
Golaszewska
Ewa
E
Strojny
Wojciech
W
Balwierz
Walentyna
W
Zdebska
Ewa
E
Burzynska
Beata
B
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
D005954:Glucosephosphate Dehydrogenase