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

被引：4

作者：

Maciag, Monika ^{[1
]}

Plochocka, Danuta ^{[1
]}

Jablonska-Skwiecinska, Ewa ^{[1
,3
]}

Mendek-Czajkowska, Ewa ^{[3
]}

Golaszewska, Ewa

Strojny, Wojciech ^{[2
]}

Balwierz, Walentyna ^{[2
]}

Zdebska, Ewa ^{[3
]}

Burzynska, Beata ^{[1
]}

机构：

[1] PAS, Inst Biochem & Biophys, Warsaw, Poland

[2] Jagiellonian Univ, Coll Med, PA Inst Pediat, Dept Pediat Oncol & Hematol, Krakow, Poland

[3] Inst Hematol & Blood Transfus, Warsaw, Poland

来源：

ACTA BIOCHIMICA POLONICA | 2007年 / 54卷 / 04期

关键词：

G6PD deficiency; molecular modeling;

D O I：

10.18388/abp.2007_3192

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 alpha e, 851T -> C mutation which results in the substitution 284Val -> -> Ala in the beta+alpha domain close to the C-terminal part of helix alpha j, and 1175T -> C substitution that predicts Ile to Thr change at position 392.

引用

页码：877 / 881

页数：5

共 18 条

[1] Human glucose-6-phosphate dehydrogenase:: the crystal structure reveals a structural NADP+ molecule and provides insights into enzyme deficiency [J].