Biopolym. Cell. 2007; 23(5):449-460.
http://dx.doi.org/10.7124/bc.000780
Біоінформатика
Біоінформаційний аналіз впливу мутацій тирозил-тРНК синтетази людини, асоційованих з нейропатією Шарко-Марі-Тус типу С, на локальні властивості її просторової структури
1Одинець К. О., 1Корнелюк О. І.
  1. Інститут молекулярної біології і генетики НАН України
    Вул. Академіка Заболотного, 150, Київ, Україна, 03680

Abstract

Нещодавно встановлено причинний зв’язок між трьома незалежними мутаціями в гені цитоплазматичної тирозил-тРНК синтетази (TyrRS) людини і домінантною нейропатією Шарко-Марі-Тус типу C (DI-CMTС). У даній роботі для двох точкових мутацій Gly41Arg і Glu196Lys та делеції 153–156delVKQV проведено біоінформаційне дослідження впливу заміни амінокислотних залишків на локальні структурні властивості димеру каталітичного модуля TyrRS людини (2 × 39 кДа, або так звана «міні-TyrRS»), зокрема, на їхнє найближче оточення та електростатичний потенціал молекулярної поверхні білка.
Keywords: тирозил-тРНК синтетаза, нейропатія Шарко-Марі-Тус типу C, просторова структура, комп’ютерний мутагенез
Повний текст: (PDF, українською) (PDF, англійською)

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