Human Pol gamma G848S

From H. sapiens
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This page presents all the information in Polbase for Human Pol gamma G848S.

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Mutant of: Human Pol gamma (G848S)

NIEHS Pol Gamma Mutation Database: G848S

Human Pol gamma G848S is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma G848S:

 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
2010 Bulent Kurt, Jaak Jaeken, Johan Van Hove, Lieven Lagae, Ann Löfgren, David B Everman, Parul Jayakar, Ali B Naini, Klaas J Wierenga, Gert Van Goethem, William C Copeland, Salvatore DiMauro A novel POLG gene mutation in 4 child...
2010 Oswald Hasselmann, Nenad Blau, Vincent T Ramaekers, Edward V Quadros, J M Sequeira, Markus Weissert Cerebral folate deficiency and CNS in...
2009 Claudia Schulte, Matthis Synofzik, Thomas Gasser, Ludger Schöls Ataxia with ophthalmoplegia or sensor...
2009 M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, H J Smeets The unfolding clinical spectrum of PO...
2009 Frank Roels, Patrick Verloo, François Eyskens, Baudouin François, Sara Seneca, Boel De Paepe, Jean-Jacques Martin, Valerie Meersschaut, Marleen Praet, Emmanuel Scalais, Marc Espeel, Joél Smet, Gert Van Goethem, Rudy Van Coster Mitochondrial mosaics in the liver of...
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...
2009 Jan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, Andrew A M Morris, Maria Bitner-Glindzicz, Nicole I Wolf, James V Leonard, Peter T Clayton, Anthony H V Schapira Analysis of mutant DNA polymerase gam...
2009 Jan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, Andrew A M Morris, Maria Bitner-Glindzicz, Nicole I Wolf, James V Leonard, Peter T Clayton, Anthony H V Schapira Analysis of mutant DNA polymerase gam...
2009 Joanna D Stewart, S Tennant, H Powell, A Pyle, E L Blakely, L He, Gavin Hudson, M Roberts, D du Plessis, D Gow, L D Mewasingh, M G Hanna, S Omer, A A Morris, R Roxburgh, J H Livingston, Robert McFarland, Douglass M Turnbull, Patrick F Chinnery, Robert W Taylor Novel POLG1 mutations associated with...
2008 Neil Ashley, Anthony O'Rourke, Conrad Smith, Susan Adams, Vasantha Gowda, Massimo Zeviani, Garry K Brown, Carl Fratter, Joanna Poulton Depletion of mitochondrial DNA in fib...
2008 Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S Schmitt, Cavatina K Truong, Margherita Milone, Bruce H Cohen, Beverly Wical, Jaya Ganesh, Alice A Basinger, Barbara K Burton, Kathryn Swoboda, Donald L Gilbert, Adeline Vanderver, Russell P Saneto, Bruno Maranda, Georgianne Arnold, Jose E Abdenur, Paula J Waters, William C Copeland Molecular and clinical genetics of mi...
2008 Nicola Brunetti-Pierri, K Selby, M O'Sullivan, G Hendson, Cavatina K Truong, Paula J Waters, L-J Wong Rapidly progressive neurological dete...
2007 M Deschauer, S Tennant, A Rokicka, L He, T Kraya, Douglass M Turnbull, S Zierz, Robert W Taylor MELAS associated with mutations in th...
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...
2006 Gittan Kollberg, Ali-Reza Moslemi, Niklas Darin, Inger Nennesmo, Ingibjörg Bjarnadottir, Paul Uvebrant, Elisabeth Holme, Atle Melberg, Már Tulinius, Anders Oldfors POLG1 mutations associated with progr...
2006 Rita Horvath, Gavin Hudson, Gianfrancesco Ferrari, Nancy Fütterer, Sofia Ahola, Eleonora Lamantea, Holger Prokisch, Hanns Lochmüller, Robert McFarland, V Ramesh, Thomas Klopstock, Peter Freisinger, Fabrizio Salvi, Johannes A Mayr, Rene Santer, Marketa Tesarova, Jiri Zeman, Bjarne Udd, Robert W Taylor, Douglass M Turnbull, Michael Hanna, Doreen Fialho, Anu Suomalainen, Massimo Zeviani, Patrick F Chinnery Phenotypic spectrum associated with m...
2005 Gittan Kollberg, Monica Jansson, Asa Pérez-Bercoff, Atle Melberg, Christopher Lindberg, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors Low frequency of mtDNA point mutation...
2005 Guido Davidzon, Michelangelo Mancuso, Silvio Ferraris, Catarina Quinzii, Michio Hirano, Heidi L Peters, Denise Kirby, David R Thorburn, Salvatore DiMauro POLG mutations and Alpers syndrome.
2005 Khue V Nguyen, E Østergaard, S Holst Ravn, T Balslev, E Rubaek Danielsen, A Vardag, P J McKiernan, G Gray, Robert K Naviaux POLG mutations in Alpers syndrome.
2005 Gianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani Infantile hepatocerebral syndromes as...
2002 Eleonora Lamantea, Valeria Tiranti, Andreina Bordoni, Antonio Toscano, Francesco Bono, Serena Servidei, Alex Papadimitriou, Hans Spelbrink, Laura Silvestri, Giorgio Casari, Giacomo P Comi, Massimo Zeviani Mutations of mitochondrial DNA polyme...

Version:20240725

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