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

• Authors: Monika Maciag , Danuta Plochocka , Ewa Jablonska-Skwiecinska , Ewa Mendek-Czajkowska , Ewa Golaszewska , Wojciech Strojny , Walentyna Balwierz , Ewa Zdebska , Beata Burzynska
• Languages of publication: EN

Abstracts

EN

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 αe, 851T→C mutation which results in the substitution 284Val→→Ala in the β+α domain close to the C-terminal part of helix αj, and 1175T→C substitution that predicts Ile to Thr change at position 392.

Keywords

EN

G6PD deficiency; molecular modeling

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2007
• Volume: 54
• Issue: 4
• Pages: 877-881

Dates

published

2007

received

2007-07-19

revised

2007-09-03

accepted

2007-09-04

(unknown)

2007-12-08

Contributors

author

Monika Maciag

• Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland

author

Danuta Plochocka

• Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland

author

Ewa Jablonska-Skwiecinska

• Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland

author

Ewa Mendek-Czajkowska

• Institute of Hematology and Blood Transfusion, Warszawa, Poland

author

Ewa Golaszewska

• Institute of Hematology and Blood Transfusion, Warszawa, Poland

author

Wojciech Strojny

• Department of Pediatric Oncology and Hematology, P-A Institute of Pediatrics, Jagiellonian University Medical College, Kraków, Poland

author

Walentyna Balwierz

• Department of Pediatric Oncology and Hematology, P-A Institute of Pediatrics, Jagiellonian University Medical College, Kraków, Poland

author

Ewa Zdebska

• Institute of Hematology and Blood Transfusion, Warszawa, Poland

author

Beata Burzynska

• Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland

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