Human Pol gamma T251I

From H. sapiens
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This page presents all the information in Polbase for Human Pol gamma T251I.

Mutants:

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Mutant of: Human Pol gamma (T251I)

NIEHS Pol Gamma Mutation Database: T251I

Human Pol gamma T251I is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma T251I:

 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 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 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 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 Charalampos Tzoulis, M Papingji, T Fiskestrand, L S Røste, Laurence A Bindoff Mitochondrial DNA depletion in progre...
2009 H Aitken, G Gorman, Robert McFarland, M Roberts, Robert W Taylor, Douglass M Turnbull Clinical reasoning: Blurred vision an...
2009 A Spinazzola, Federica Invernizzi, Franco Carrara, Eleonora Lamantea, Alice Donati, M Dirocco, I Giordano, M Meznaric-Petrusa, Enrico Baruffini, Iliana Ferrero, Massimo Zeviani Clinical and molecular features of mi...
2009 Prinyarat Burusnukul, Emily C de los Reyes Phenotypic variations in 3 children w...
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...
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 Emiliano González-Vioque, Alberto Blázquez, Daniel Fernández-Moreira, Belén Bornstein, Juan Bautista, Javier Arpa, Carmen Navarro, Yolanda Campos, Miguel A Fernández-Moreno, Rafael Garesse, Joaquin Arenas, Miguel A Martín Association of novel POLG mutations a...
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 Gianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani Infantile hepatocerebral syndromes as...
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...
2003 Gert Van Goethem, Marianne Schwartz, Ann Löfgren, Bart Dermaut, Christine Van Broeckhoven, John Vissing Novel POLG mutations in progressive e...
2003 Alessio Di Fonzo, Andreina Bordoni, Marco Crimi, Galbiati Sara, Roberto Del Bo, Nereo Bresolin, Giacomo P Comi POLG mutations in sporadic mitochondr...
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:20241218

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