Human Pol gamma W748S

From H. sapiens
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This page presents all the information in Polbase for Human Pol gamma W748S.

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Mutant of: Human Pol gamma (W748S)

NIEHS Pol Gamma Mutation Database: W748S

Human Pol gamma W748S is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma W748S:

 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...
2009 Karin Naess, Christoph Freyer, Helene Bruhn, Rolf Wibom, Gunilla Malm, Inger Nennesmo, Ulrika von Döbeln, Nils-Göran Larsson MtDNA mutations are a common cause of...
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...
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 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 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 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 Charalampos Tzoulis, M Papingji, T Fiskestrand, L S Røste, Laurence A Bindoff Mitochondrial DNA depletion in progre...
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 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...
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 Anne M Remes, Reetta Hinttala, M Kärppä, Heidi Soini, R Takalo, Johanna Uusimaa, Kari Majamaa Parkinsonism associated with the homo...
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 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 Johanna Uusimaa, Reetta Hinttala, Heikki Rantala, Markku Päivärinta, Riitta Herva, Matias Röyttä, Heidi Soini, Jukka S Moilanen, Anne M Remes, Ilmo E Hassinen, Kari Majamaa Homozygous W748S mutation in the POLG...
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 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 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 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 Sherine S L Chan, Matthew J Longley, William C Copeland Modulation of the W748S mutation in D...
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 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 Anna H Hakonen, Silja Heiskanen, Vesa Juvonen, Ilse Lappalainen, Petri T Luoma, Maria Rantamaki, Gert Van Goethem, Ann Lofgren, Peter Hackman, Anders Paetau, Seppo Kaakkola, Kari Majamaa, Teppo Varilo, Bjarne Udd, Helena Kaariainen, Laurence A Bindoff, Anu Suomalainen Mitochondrial DNA polymerase W748S mu...
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 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...
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...

Version:20241218

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