Human Pol gamma E1143G

From H. sapiens
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This page presents all the information in Polbase for Human Pol gamma E1143G.

Mutants:

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Structures/Sequence:

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Mutant of: Human Pol gamma (E1143G)

NIEHS Pol Gamma Mutation Database: E1143G

Human Pol gamma E1143G is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma E1143G:

 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 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...
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 Franck Chiappini, Elina Teicher, Raphaël Saffroy, Brigitte Debuire, Daniel Vittecoq, Antoinette Lemoine Relationship between polymerase gamma...
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 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...
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...
2008 Robert McFarland, Gavin Hudson, Robert W Taylor, S H Green, S Hodges, P J McKiernan, Patrick F Chinnery, V Ramesh Reversible valproate hepatotoxicity d...
2007 Emmanuelle Sarzi, Alice Bourdon, Dominique Chrétien, Mohamed Zarhrate, Johanna Corcos, Abdelhamid Slama, Valérie Cormier-Daire, Pascale de Lonlay, Arnold Munnich, Agnès Rötig Mitochondrial DNA depletion is a prev...
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...
2006 Sherine S L Chan, Matthew J Longley, William C Copeland Modulation of the W748S mutation in D...
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...
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 Fuki M Hisama, Michelangelo Mancuso, Massimiliano Filosto, Salvatore DiMauro Progressive external ophthalmoplegia:...
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...
2005 Synnøve Winterthun, Gianfrancesco Ferrari, L He, Robert W Taylor, Massimo Zeviani, Douglass M Turnbull, Bernt A Engelsen, G Moen, Laurence A Bindoff Autosomal recessive mitochondrial ata...
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.
2004 Gert Van Goethem, Petri Luoma, M Rantamäki, A Al Memar, Seppo Kaakkola, Peter Hackman, R Krahe, Ann Löfgren, Jean-Jacques Martin, P De Jonghe, Anu Suomalainen, Bjarne Udd, Christine Van Broeckhoven POLG mutations in neurodegenerative d...
2003 Alessio Di Fonzo, Andreina Bordoni, Marco Crimi, Galbiati Sara, Roberto Del Bo, Nereo Bresolin, Giacomo P Comi POLG mutations in sporadic mitochondr...

Version:20241007

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