Human Pol gamma R227W

From H. sapiens
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Mutant of: Human Pol gamma (R227W)

NIEHS Pol Gamma Mutation Database: R227W

Human Pol gamma R227W is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma R227W:

3'-5' exo activity 5'-3' exo activity Frameshift Rate Substitution Rate General Error Rate
no data no data no data no data no data
Year Authors Title Results by property
2009 C Giordano, H Powell, M Leopizzi, M De Curtis, M de Curtis, C Travaglini, M Sebastiani, P Gallo, Robert W Taylor, G d'Amati Fatal congenital myopathy and gastroi...
2007 Maaike C de Vries, Richard J Rodenburg, Eva Morava, Edwin P M van Kaauwen, Henk ter Laak, Reinier A Mullaart, Irina N Snoeck, Peter M van Hasselt, Peter Harding, Lambert P W van den Heuvel, Jan A M Smeitink Multiple oxidative phosphorylation de...
2004 Eleonora Lamantea, Massimo Zeviani Sequence analysis of familial PEO sho...
2003 A Agostino, L Valletta, Patrick F Chinnery, Gianfrancesco Ferrari, Franco Carrara, Robert W Taylor, Andrew M Schaefer, Douglass M Turnbull, Valeria Tiranti, Massimo Zeviani Mutations of ANT1, Twinkle, and POLG1...