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

• Autorzy: Maciag M. , Plochocka D. , Jablonska-Skwiecinska E. , Mendek-Czajkowska E. , Golaszewska E. , Strojny W. , Balwierz W. , Zdebska E. , Burzynska B.
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

PL

glucose-6-phosphate dehydrogenase; deficiency; molecular modelling; molecular analysis; novel variant; mutation; gene; enzyme; change

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2007
• Tom: 54
• Numer: 4
• Opis fizyczny: p.877-881,fig.,ref.

Twórcy

autor

Maciag M.

• Polish Academy of Sciences, A.Pawinskiego 5A, 02-106 Warsaw, Poland

autor

Plochocka D.

autor

Jablonska-Skwiecinska E.

autor

Mendek-Czajkowska E.

autor

Golaszewska E.

autor

Strojny W.

autor

Balwierz W.

autor

Zdebska E.

autor

Burzynska B.

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