Human Pol gamma G517V

From H. sapiens
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This page presents all the information in Polbase for Human Pol gamma G517V.

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Mutant of: Human Pol gamma (G517V)

NIEHS Pol Gamma Mutation Database: G517V

Human Pol gamma G517V is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma G517V:

 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 Sarah E Hopkins, Arthur Somoza, Donald L Gilbert Rare autosomal dominant POLG1 mutatio...
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 Maija Bolszak, Anna-Kaisa Anttonen, Tuomas Komulainen, Reetta Hinttala, Salla Pakanen, Raija Sormunen, Riitta Herva, Anna-Elina Lehesjoki, Kari Majamaa, Heikki Rantala, Johanna Uusimaa Digenic mutations in severe myoclonic...
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 Prinyarat Burusnukul, Emily C de los Reyes Phenotypic variations in 3 children w...
2009 Claudia Schulte, Matthis Synofzik, Thomas Gasser, Ludger Schöls Ataxia with ophthalmoplegia or sensor...
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 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 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...

Version:20241007

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