TWNK c.908G>A ;(p.R303Q)

Variant ID: 10-102748875-G-A

NM_021830.4(TWNK):c.908G>A;(p.R303Q)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: TWNK: 908G>A; Arg303Gln
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.

Movement Disorders : Official Journal Of The Movement Disorder Society
Percetti, Marco M; Franco, Giulia G; Monfrini, Edoardo E; Caporali, Leonardo L; Minardi, Raffaella R; La Morgia, Chiara C; Valentino, Maria Lucia ML; Liguori, Rocco R; Palmieri, Ilaria I; Ottaviani, Donatella D; Vizziello, Maria M; Ronchi, Dario D; Di Berardino, Federica F; Cocco, Antoniangela A; Macao, Bertil B; Falkenberg, Maria M; Comi, Giacomo Pietro GP; Albanese, Alberto A; Giometto, Bruno B; Valente, Enza Maria EM; Carelli, Valerio V; Di Fonzo, Alessio A
Publication Date: 2022-09

Variant appearance in text: PEO: 908G>A; rs137852956
PubMed Link: 35792653
Variant Present in the following documents:
  • MDS-37-1938-s001.pdf
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: TWNK: R303Q; rs137852956
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.

Journal Of Clinical Medicine
Bermejo-Guerrero, Laura L; de Fuenmayor-Fernández de la Hoz, Carlos Pablo CP; Serrano-Lorenzo, Pablo P; Blázquez-Encinar, Alberto A; Gutiérrez-Gutiérrez, Gerardo G; Martínez-Vicente, Laura L; Galán-Dávila, Lucía L; García-García, Jorge J; Arenas, Joaquín J; Muelas, Nuria N; Hernández-Laín, Aurelio A; Domínguez-González, Cristina C; Martín, Miguel A MA
Publication Date: 2021-12-22

Variant appearance in text: TWNK: 908G>A
PubMed Link: 35011763
Variant Present in the following documents:
  • Main text
  • jcm-11-00022.pdf
View BVdb publication page



Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.

Journal Of Clinical Medicine
Bermejo-Guerrero, Laura L; de Fuenmayor-Fernández de la Hoz, Carlos Pablo CP; Serrano-Lorenzo, Pablo P; Blázquez-Encinar, Alberto A; Gutiérrez-Gutiérrez, Gerardo G; Martínez-Vicente, Laura L; Galán-Dávila, Lucía L; García-García, Jorge J; Arenas, Joaquín J; Muelas, Nuria N; Hernández-Laín, Aurelio A; Domínguez-González, Cristina C; Martín, Miguel A MA
Publication Date: 2021-12-22

Variant appearance in text: TWNK: 908G>A
PubMed Link: 35011763
Variant Present in the following documents:
  • Main text
  • jcm-11-00022.pdf
View BVdb publication page



The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications
Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J
Publication Date: 2021-12-06

Variant appearance in text: TWNK: R303Q
PubMed Link: 34873156
Variant Present in the following documents:
  • 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications
Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J
Publication Date: 2021-12-06

Variant appearance in text: TWNK: R303Q
PubMed Link: 34873156
Variant Present in the following documents:
  • 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?

Neurology
Breen, David P DP; Munoz, David G DG; Lang, Anthony E AE
Publication Date: 2020-10-06

Variant appearance in text: C10orf2: 908G>A
PubMed Link: 32847958
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2020081190.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: TWNK: 908G>A; Arg303Gln; rs137852956
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
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: PEO: R303Q
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Neurology
Fratter, C C; Gorman, G S GS; Stewart, J D JD; Buddles, M M; Smith, C C; Evans, J J; Seller, A A; Poulton, J J; Roberts, M M; Hanna, M G MG; Rahman, S S; Omer, S E SE; Klopstock, T T; Schoser, B B; Kornblum, C C; Czermin, B B; Lecky, B B; Blakely, E L EL; Craig, K K; Chinnery, P F PF; Turnbull, D M DM; Horvath, R R; Taylor, R W RW
Publication Date: 2010-05-18

Variant appearance in text: PEO1: R303Q
PubMed Link: 20479361
Variant Present in the following documents:
  • Main text
View BVdb publication page