Human Pol gamma A467T

From H. sapiens
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This page presents all the information in Polbase for Human Pol gamma A467T.

Mutants:

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Structures/Sequence:

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Mutant of: Human Pol gamma (A467T)

NIEHS Pol Gamma Mutation Database: A467T

Human Pol gamma A467T is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma A467T:

 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 John C McHugh, Roisin Lonergan, Rachel Howley, Killian O'Rourke, Robert W Taylor, Michael Farrell, Michael Hutchinson, Sean Connolly Sensory ataxic neuropathy dysarthria ...
2010 Oswald Hasselmann, Nenad Blau, Vincent T Ramaekers, Edward V Quadros, J M Sequeira, Markus Weissert Cerebral folate deficiency and CNS in...
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...
2009 Claudia Schulte, Matthis Synofzik, Thomas Gasser, Ludger Schöls Ataxia with ophthalmoplegia or sensor...
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 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 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 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 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 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 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 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 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 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 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 Robert McFarland, Gavin Hudson, Robert W Taylor, S H Green, S Hodges, P J McKiernan, Patrick F Chinnery, V Ramesh Reversible valproate hepatotoxicity d...
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...
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 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 Gregory R Stuart, Janine H Santos, Micheline K Strand, Bennett Van Houten, William C Copeland Mitochondrial and nuclear DNA defects...
2006 Charalampos Tzoulis, Bernt A Engelsen, Wenche Telstad, Jan Aasly, Massimo Zeviani, Synnøve Winterthun, Gianfrancesco Ferrari, Jan H Aarseth, Laurence A Bindoff The spectrum of clinical disease caus...
2006 Mourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, Jean Pouget, Claude Desnuelle, Jean-François Pellissier, Agnes Rötig, Arnold Munnich, Patrick Calvas, Christian Richelme, Philippe Jonveaux, Giovanni Castelnovo, Mariella Simon, Melvin Simon, Michel Clanet, Douglas Wallace, Véronique Paquis-Flucklinger Molecular analysis of ANT1, TWINKLE a...
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 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 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 Sherine S L Chan, Matthew J Longley, Robert K Naviaux, William C Copeland Mono-allelic POLG expression resultin...
2005 Sherine S L Chan, Matthew J Longley, William C Copeland The common A467T mutation in the huma...
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.
2005 Petri T Luoma, Ningguang Luo, Wolfgang N Löscher, Carol L Farr, Rita Horvath, Julia Wanschitz, Stefan Kiechl, Laurie S Kaguni, Anu Suomalainen Functional defects due to spacer-regi...
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...
2004 Robert K Naviaux, Khue V Nguyen POLG mutations associated with Alpers...
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, R Mercelis, Ann Löfgren, Sara Seneca, C Ceuterick, Jean-Jacques Martin, Christine Van Broeckhoven Patient homozygous for a recessive PO...
2003 Gert Van Goethem, Jean-Jacques Martin, Bart Dermaut, Ann Löfgren, A Wibail, D Ververken, P Tack, I Dehaene, M Van Zandijcke, M Moonen, C Ceuterick, P De Jonghe, Christine Van Broeckhoven Recessive POLG mutations presenting w...
2003 Alessio Di Fonzo, Andreina Bordoni, Marco Crimi, Galbiati Sara, Roberto Del Bo, Nereo Bresolin, Giacomo P Comi POLG mutations in sporadic mitochondr...
2001 Gert Van Goethem, Bart Dermaut, Ann Löfgren, Jean-Jacques Martin, Christine Van Broeckhoven Mutation of POLG is associated with p...

Version:20241218

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