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

Monika Maciag; Danuta Plochocka; Ewa Jablonska-Skwiecinska; Ewa Mendek-Czajkowska; Ewa Golaszewska; Wojciech Strojny; Walentyna Balwierz; Ewa Zdebska; Beata Burzynska

doi:10.18388/abp.2007_3192

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

Monika Maciag Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland.;
Danuta Plochocka
Ewa Jablonska-Skwiecinska
Ewa Mendek-Czajkowska
Ewa Golaszewska
Wojciech Strojny
Walentyna Balwierz
Ewa Zdebska
Beata Burzynska

DOI: https://doi.org/10.18388/abp.2007_3192

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.

Published

2007-12-08

Issue

Vol. 54 No. 4 (2007)

Section

Articles

Acta Biochimica Polonica is an OpenAccess quarterly and publishes four issues a year. All contents are distributed under the Creative Commons Attribution-ShareAlike 4.0 International (CC BY 4.0) license. Everybody may use the content following terms: Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.