POLG c.2209G>A ;(p.G737R)

Variant ID: 15-89866691-C-T

NM_002693.2(POLG):c.2209G>A;(p.G737R)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


The Y831C Mutation of the POLG Gene in Dementia.

Biomedicines
Borgione, Eugenia E; Lo Giudice, Mariangela M; Santa Paola, Sandro S; Giuliano, Marika M; Lanza, Giuseppe G; Cantone, Mariagiovanna M; Ferri, Raffaele R; Scuderi, Carmela C
Publication Date: 2023-04-13

Variant appearance in text: POLG: G737R
PubMed Link: 37189790
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01172.pdf
View BVdb publication page



Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy.

Bmj Neurology Open
Elwan, Menatalla M; Schaefer, Andrew M AM; Craig, Kate K; Hopton, Sila S; Falkous, Gavin G; Blakely, Emma L EL; Taylor, Robert W RW; Warren, Naomi N
Publication Date: 2022

Variant appearance in text: POLG: 2209G>A
PubMed Link: 36518302
Variant Present in the following documents:
  • Main text
  • bmjno-2022-000352.pdf
View BVdb publication page



Crosslink between mutations in mitochondrial genes and brain disorders: implications for mitochondrial-targeted therapeutic interventions.

Neural Regeneration Research
Kalra, Jaspreet J
Publication Date: 2023-01

Variant appearance in text: POLG: G737R
PubMed Link: 35799515
Variant Present in the following documents:
  • Main text
  • NRR-18-94.pdf
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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: N/A
PubMed Link: 35504881
Variant Present in the following documents:
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: N/A
PubMed Link: 35115730
Variant Present in the following documents:
View BVdb publication page



Development of a Mitochondrial Myopathy-Composite Assessment Tool.

Jcsm Clinical Reports
Flickinger, Jean J; Fan, Jiaxin J; Wellik, Amanda A; Ganetzky, Rebecca R; Goldstein, Amy A; Muraresku, Colleen C CC; Glanzman, Allan M AM; Ballance, Elizabeth E; Leonhardt, Kristin K; McCormick, Elizabeth M EM; Soreth, Brianna B; Nguyen, Sara S; Gornish, Jennifer J; George-Sankoh, Ibrahim I; Peterson, James J; MacMullen, Laura E LE; Vishnubhatt, Shailee S; McBride, Michael M; Haas, Richard R; Falk, Marni J MJ; Xiao, Rui R; Zolkipli-Cunningham, Zarazuela Z
Publication Date: 2021-10

Variant appearance in text: POLG: Gly737Arg
PubMed Link: 35071983
Variant Present in the following documents:
  • NIHMS1767033-supplement-Supplementary_Tables.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: rs121918054
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?

Journal Of Clinical And Translational Research
Idiculla, Pretty Sara PS; Hussain, Syed Taimour ST; Siddiqui, Junaid Habib JH
Publication Date: 2021-06-26

Variant appearance in text: POLG: G737R
PubMed Link: 34179544
Variant Present in the following documents:
  • jclintranslres-2021-7-3-297.pdf
View BVdb publication page



POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.

Brain And Behavior
Hsieh, Pei-Chen PC; Wang, Chun-Chieh CC; Tsai, Chia-Lung CL; Yeh, Yuan-Ming YM; Lee, Yun Shien YS; Wu, Yih-Ru YR
Publication Date: 2019-05

Variant appearance in text: POLG: G737R
PubMed Link: 30941926
Variant Present in the following documents:
  • Main text
  • BRB3-9-e01281.pdf
View BVdb publication page



Late-onset presentation of POLG1-associated mitochondrial disease.

Bmj Case Reports
Meira, Bruna B; Roque, Rafael R; Pinto, Miguel M; Caetano, André A
Publication Date: 2019-03-31

Variant appearance in text: POLG1: G737R
PubMed Link: 30936349
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: N/A
PubMed Link: 30665703
Variant Present in the following documents:
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs121918054
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.

Ageing Research Reviews
DeBalsi, Karen L KL; Hoff, Kirsten E KE; Copeland, William C WC
Publication Date: 2017-01

Variant appearance in text: POLG: G737R
PubMed Link: 27143693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Brain : A Journal Of Neurology
Kullar, Peter J PJ; Quail, Jenna J; Lindsey, Phillip P; Wilson, Janet A JA; Horvath, Rita R; Yu-Wai-Man, Patrick P; Gorman, Grainne S GS; Taylor, Robert W RW; Ng, Yi Y; McFarland, Robert R; Moore, Brian C J BC; Chinnery, Patrick F PF
Publication Date: 2016-06

Variant appearance in text: POLG: Gly737Arg
PubMed Link: 27016405
Variant Present in the following documents:
  • Main text
  • aww051.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs121918054
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: POLG: G737R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: POLG: G737R
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: POLG: G737R; rs121918054
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

Molecular Genetics And Metabolism
Sitarz, Kamil S KS; Elliott, Hannah R HR; Karaman, Betül S BS; Relton, Caroline C; Chinnery, Patrick F PF; Horvath, Rita R
Publication Date: 2014-05

Variant appearance in text: POLG: Gly737Arg
PubMed Link: 24725338
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of mitochondrial DNA polymerase γ gene POLG1 polymorphisms with parkinsonism in Chinese populations.

Plos One
Gui, Ya-xing YX; Xu, Zhong-ping ZP; Lv, Wen W; Liu, Hong-mei HM; Zhao, Jin-jia JJ; Hu, Xing-yue XY
Publication Date: 2012

Variant appearance in text: POLG1: G737R
PubMed Link: 23251356
Variant Present in the following documents:
  • Main text
  • pone.0050086.pdf
View BVdb publication page



In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.

Molecular Genetics And Metabolism
Bulst, Stefanie S; Holinski-Feder, Elke E; Payne, Brendan B; Abicht, Angela A; Krause, Sabine S; Lochmüller, Hanns H; Chinnery, Patrick F PF; Walter, Maggie C MC; Horvath, Rita R
Publication Date: 2012-09

Variant appearance in text: POLG: Gly737Arg
PubMed Link: 22608879
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Nucleic Acids Research
Euro, Liliya L; Farnum, Gregory A GA; Palin, Eino E; Suomalainen, Anu A; Kaguni, Laurie S LS
Publication Date: 2011-11

Variant appearance in text: POLG1: G737R
PubMed Link: 21824913
Variant Present in the following documents:
  • Main text
  • gkr618.pdf
View BVdb publication page



Do somatic mitochondrial DNA mutations contribute to Parkinson's disease?

Parkinson'S Disease
Clark, Joanne J; Dai, Ying Y; Simon, David K DK
Publication Date: 2011

Variant appearance in text: POLG: G737R
PubMed Link: 21603185
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research
Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C
Publication Date: 2011-01

Variant appearance in text: POLG: G737R
PubMed Link: 20843780
Variant Present in the following documents:
  • gkq750.pdf
  • supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1
View BVdb publication page



A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities of only the holoenzyme.

The Journal Of Biological Chemistry
Lee, Young-Sam YS; Johnson, Kenneth A KA; Molineux, Ian J IJ; Yin, Y Whitney YW
Publication Date: 2010-09-03

Variant appearance in text: POLG: G737R
PubMed Link: 20513922
Variant Present in the following documents:
  • Main text
View BVdb publication page