MYH7 c.1207C>T ;(p.R403W)

Variant ID: 14-23898488-G-A

NM_000257.2(MYH7):c.1207C>T;(p.R403W)

This variant was identified in 56 publications

View GRCh38 version.




Publications:


Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology
Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J
Publication Date: 2023-04-18

Variant appearance in text: MYH7: R403W
PubMed Link: 37131793
Variant Present in the following documents:
  • Main text
  • nihpp-2023.04.15.536999v1.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.

Cell Discovery
Liu, Xuanyu X; Yin, Kunlun K; Chen, Liang L; Chen, Wen W; Li, Wenke W; Zhang, Taojun T; Sun, Yang Y; Yuan, Meng M; Wang, Hongyue H; Song, Yunhu Y; Wang, Shuiyun S; Hu, Shengshou S; Zhou, Zhou Z
Publication Date: 2023-01-17

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 36646705
Variant Present in the following documents:
  • 41421_2022_490_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine
Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW
Publication Date: 2022-10-20

Variant appearance in text: MYH7: Arg403Trp; rs3218714
PubMed Link: 36264615
Variant Present in the following documents:
  • hcg-15-e003704-s001.pdf
View BVdb publication page



Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.

Circulation
Lota, Amrit S AS; Hazebroek, Mark R MR; Theotokis, Pantazis P; Wassall, Rebecca R; Salmi, Sara S; Halliday, Brian P BP; Tayal, Upasana U; Verdonschot, Job J; Meena, Devendra D; Owen, Ruth R; de Marvao, Antonio A; Iacob, Alma A; Yazdani, Momina M; Hammersley, Daniel J DJ; Jones, Richard E RE; Wage, Riccardo R; Buchan, Rachel R; Vivian, Fredrik F; Hafouda, Yakeen Y; Noseda, Michela M; Gregson, John J; Mittal, Tarun T; Wong, Joyce J; Robertus, Jan Lukas JL; Baksi, A John AJ; Vassiliou, Vassilios V; Tzoulaki, Ioanna I; Pantazis, Antonis A; Cleland, John G F JGF; Barton, Paul J R PJR; Cook, Stuart A SA; Pennell, Dudley J DJ; Garcia-Pavia, Pablo P; Cooper, Leslie T LT; Heymans, Stephane S; Ware, James S JS; Prasad, Sanjay K SK
Publication Date: 2022-10-11

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 36154167
Variant Present in the following documents:
  • cir-146-1123-s001.pdf
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: MYH7: 1207C>T
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.

Stem Cell Research & Therapy
Li, Jiangtao J; Feng, Xin X; Wei, Xiang X
Publication Date: 2022-06-03

Variant appearance in text: MYH7: R403W
PubMed Link: 35659761
Variant Present in the following documents:
  • 13287_2022_Article_2905.pdf
View BVdb publication page



An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse.

Bmc Genomic Data
Bartsch, Lorenz L; Schroeder, Michael P MP; Hänzelmann, Sonja S; Bastian, Lorenz L; Lázaro-Navarro, Juan J; Schlee, Cornelia C; Tanchez, Jutta Ortiz JO; Schulze, Veronika V; Isaakidis, Konstandina K; Rieger, Michael A MA; Gökbuget, Nicola N; Eckert, Cornelia C; Serve, Hubert H; Horstmann, Martin M; Schrappe, Martin M; Brüggemann, Monika M; Baldus, Claudia D CD; Neumann, Martin M
Publication Date: 2022-04-18

Variant appearance in text: MYH7: R403W; rs3218714
PubMed Link: 35436854
Variant Present in the following documents:
  • 12863_2022_1041_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences
Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A
Publication Date: 2022-02-16

Variant appearance in text: MYH7: R403W
PubMed Link: 35216312
Variant Present in the following documents:
  • Main text
  • ijms-23-02195.pdf
View BVdb publication page



Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.

Iscience
Meier, Anna B AB; Raj Murthi, Sarala S; Rawat, Hilansi H; Toepfer, Christopher N CN; Santamaria, Gianluca G; Schmid, Manuel M; Mastantuono, Elisa E; Schwarzmayr, Thomas T; Berutti, Riccardo R; Cleuziou, Julie J; Ewert, Peter P; Görlach, Agnes A; Klingel, Karin K; Laugwitz, Karl-Ludwig KL; Seidman, Christine E CE; Seidman, Jonathan G JG; Moretti, Alessandra A; Wolf, Cordula M CM
Publication Date: 2022-01-21

Variant appearance in text: MYH7: Arg403Trp
PubMed Link: 34988410
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: 1207C>T; R403W
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: 1207C>T; R403W
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2022-02

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 34697415
Variant Present in the following documents:
  • 41431_2021_964_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2021-10-25

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 34697415
Variant Present in the following documents:
  • 41431_2021_964_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal
Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY
Publication Date: 2021-05-21

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 33769460
Variant Present in the following documents:
  • ehab148_supplementary_appendix.pdf
View BVdb publication page



Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders
Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J
Publication Date: 2021-03-05

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 33673806
Variant Present in the following documents:
  • 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Regional myocardial function at preclinical disease stage of hypertrophic cardiomyopathy in female gene variant carriers.

The International Journal Of Cardiovascular Imaging
Parbhudayal, Rahana Y RY; Seegers, Celine C; Croisille, Pierre P; Clarysse, Patrick P; van Rossum, Albert C AC; Germans, Tjeerd T; van der Velden, Jolanda J
Publication Date: 2021-06

Variant appearance in text: MYH7: 1207C>T
PubMed Link: 33559798
Variant Present in the following documents:
  • 10554_2020_Article_2156.pdf
View BVdb publication page



Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Nature Genetics
Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR
Publication Date: 2021-02

Variant appearance in text: MYH7: 1207C>T; R403W
PubMed Link: 33495596
Variant Present in the following documents:
  • EMS114661-supplement-Supplementary_Tables.xlsx, sheet 3
View BVdb publication page



New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.

Journal Of Clinical Medicine
Kolokotronis, Konstantinos K; Pluta, Natalie N; Klopocki, Eva E; Kunstmann, Erdmute E; Messroghli, Daniel D; Maack, Christoph C; Tejman-Yarden, Shai S; Arad, Michael M; Rost, Simone S; Gerull, Brenda B
Publication Date: 2020-07-09

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 32659924
Variant Present in the following documents:
  • Main text
  • jcm-09-02168.pdf
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Genetics of inherited cardiomyopathies in Africa.

Cardiovascular Diagnosis And Therapy
Shaboodien, Gasnat G; Spracklen, Timothy F TF; Kamuli, Stephen S; Ndibangwi, Polycarp P; Van Niekerk, Carla C; Ntusi, Ntobeko A B NAB
Publication Date: 2020-04

Variant appearance in text: MYH7: Arg403Trp
PubMed Link: 32420109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: MYH7: 1207C>T; R403W
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM19_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

International Journal Of Molecular Sciences
Gao, Jun J; Collyer, John J; Wang, Maochun M; Sun, Fengping F; Xu, Fuyi F
Publication Date: 2020-04-25

Variant appearance in text: MYH7: R403W; rs3218714
PubMed Link: 32344918
Variant Present in the following documents:
  • Main text
  • ijms-21-03040.pdf
View BVdb publication page



Direct Sarcomere Modulators Are Promising New Treatments for Cardiomyopathies.

International Journal Of Molecular Sciences
Tsukamoto, Osamu O
Publication Date: 2019-12-28

Variant appearance in text: MYH7: R403W
PubMed Link: 31905684
Variant Present in the following documents:
  • Main text
  • ijms-21-00226.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MYH7: 1207C>T; R403W
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: MYH7: 1207C>T; rs3218714
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 6
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MYH7: 1207C>T; R403W
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Archives Of Medical Science : Ams
Bonaventura, Jiří J; Norambuena, Patricia P; Tomašov, Pavol P; Jindrová, Denisa D; Šedivá, Hana H; Macek, Milan M; Veselka, Josef J
Publication Date: 2019-05

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 31110529
Variant Present in the following documents:
  • AMS-15-33903-S1.pdf
View BVdb publication page



Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures.

Scientific Reports
Schroeder, Michael P MP; Bastian, Lorenz L; Eckert, Cornelia C; Gökbuget, Nicola N; James, Alva Rani AR; Tanchez, Jutta Ortiz JO; Schlee, Cornelia C; Isaakidis, Konstandina K; Häupl, Björn B; Baum, Katharina K; Migueles Lozano, Oscar Arturo OA; Kouidri, Khouloud K; Pan, Kuan-Ting KT; Urlaub, Henning H; Schwartz, Stefan S; Burmeister, Thomas T; von Stackelberg, Arend A; Hoelzer, Dieter D; Pfeiffer, Heike H; Rieger, Michael A MA; Göllner, Stefanie S; Oellerich, Thomas T; Horstman, Martin M; Schrappe, Martin M; Wolf, Jana J; Kirschner-Schwabe, Renate R; Brüggemann, Monika M; Müller-Tidow, Carsten C; Serve, Hubert H; Neumann, Martin M; Baldus, Claudia D CD
Publication Date: 2019-03-12

Variant appearance in text: MYH7: R403W; rs3218714
PubMed Link: 30862934
Variant Present in the following documents:
  • 41598_2019_40786_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYH7: Arg403Trp
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



The homozygous K280N troponin T mutation alters cross-bridge kinetics and energetics in human HCM.

The Journal Of General Physiology
Piroddi, Nicoletta N; Witjas-Paalberends, E Rosalie ER; Ferrara, Claudia C; Ferrantini, Cecilia C; Vitale, Giulia G; Scellini, Beatrice B; Wijnker, Paul J M PJM; Sequiera, Vasco V; Dooijes, Dennis D; Dos Remedios, Cristobal C; Schlossarek, Saskia S; Leung, Man Ching MC; Messer, Andrew A; Ward, Douglas G DG; Biggeri, Annibale A; Tesi, Chiara C; Carrier, Lucie L; Redwood, Charles S CS; Marston, Steven B SB; van der Velden, Jolanda J; Poggesi, Corrado C
Publication Date: 2019-01-07

Variant appearance in text: MYH7: R403W
PubMed Link: 30578328
Variant Present in the following documents:
  • JGP_201812160.pdf
View BVdb publication page



Secondary findings in 421 whole exome-sequenced Chinese children.

Human Genomics
Chen, Wen W; Li, Wenke W; Ma, Yi Y; Zhang, Yujing Y; Han, Bianmei B; Liu, Xuewen X; Zhao, Kun K; Zhang, Meixian M; Mi, Jie J; Fu, Yuanyuan Y; Zhou, Zhou Z
Publication Date: 2018-09-14

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 30217213
Variant Present in the following documents:
  • Main text
  • 40246_2018_Article_174.pdf
View BVdb publication page



CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy.

European Heart Journal
Mosqueira, Diogo D; Mannhardt, Ingra I; Bhagwan, Jamie R JR; Lis-Slimak, Katarzyna K; Katili, Puspita P; Scott, Elizabeth E; Hassan, Mustafa M; Prondzynski, Maksymilian M; Harmer, Stephen C SC; Tinker, Andrew A; Smith, James G W JGW; Carrier, Lucie L; Williams, Philip M PM; Gaffney, Daniel D; Eschenhagen, Thomas T; Hansen, Arne A; Denning, Chris C
Publication Date: 2018-11-14

Variant appearance in text: MYH7: R403W
PubMed Link: 29741611
Variant Present in the following documents:
  • Main text
  • ehy249.pdf
View BVdb publication page



Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Kelly, Melissa A MA; Caleshu, Colleen C; Morales, Ana A; Buchan, Jillian J; Wolf, Zena Z; Harrison, Steven M SM; Cook, Stuart S; Dillon, Mitchell W MW; Garcia, John J; Haverfield, Eden E; Jongbloed, Jan D H JDH; Macaya, Daniela D; Manrai, Arjun A; Orland, Kate K; Richard, Gabriele G; Spoonamore, Katherine K; Thomas, Matthew M; Thomson, Kate K; Vincent, Lisa M LM; Walsh, Roddy R; Watkins, Hugh H; Whiffin, Nicola N; Ingles, Jodie J; van Tintelen, J Peter JP; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray R; Funke, Birgit B
Publication Date: 2018-03

Variant appearance in text: MYH7: Arg403Trp
PubMed Link: 29300372
Variant Present in the following documents:
  • gim2017218x2.pdf
View BVdb publication page



Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: MYH7: R403W
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine
Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE
Publication Date: 2017-02-06

Variant appearance in text: MYH7: 1207C>T; Arg403Trp
PubMed Link: 28166811
Variant Present in the following documents:
  • Main text
  • 13073_2017_Article_403.pdf
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Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

Cardiovascular Journal Of Africa
Ntusi, Ntobeko A NA; Shaboodien, Gasnat G; Badri, Motasim M; Gumedze, Freedom F; Mayosi, Bongani M BM
Publication Date: 2016

Variant appearance in text: MYH7: Arg403Trp
PubMed Link: 27841901
Variant Present in the following documents:
  • Main text
  • cvja-27-152.pdf
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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: MYH7: R403W; rs3218714
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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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: MYH7: R403W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: MYH7: R403W; rs3218714
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
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Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes.

Cardiovascular Research
Eschenhagen, Thomas T; Mummery, Christine C; Knollmann, Bjorn C BC
Publication Date: 2015-04-01

Variant appearance in text: MYH7: R403W
PubMed Link: 25618410
Variant Present in the following documents:
  • Main text
  • cvv017.pdf
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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: MYH7: R403W
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
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Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell
Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC
Publication Date: 2014-01

Variant appearance in text: MYH7: R403W
PubMed Link: 24474197
Variant Present in the following documents:
  • 13238_2013_16_MOESM8_ESM.xlsx, sheet 2
  • 13238_2013_16_MOESM9_ESM.pdf
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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Journal Of Medical Genetics
Mook, Olaf R F OR; Haagmans, Martin A MA; Soucy, Jean-François JF; van de Meerakker, Judith B A JB; Baas, Frank F; Jakobs, Marja E ME; Hofman, Nynke N; Christiaans, Imke I; Lekanne Deprez, Ronald H RH; Mannens, Marcel M A M MM
Publication Date: 2013-09

Variant appearance in text: MYH7: 1207C>T
PubMed Link: 23785128
Variant Present in the following documents:
  • Main text
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Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Journal Of Medical Genetics
Lopes, Luis R LR; Zekavati, Anna A; Syrris, Petros P; Hubank, Mike M; Giambartolomei, Claudia C; Dalageorgou, Chrysoula C; Jenkins, Sharon S; McKenna, William W; , ; Plagnol, Vincent V; Elliott, Perry M PM
Publication Date: 2013-04

Variant appearance in text: MYH7: R403W
PubMed Link: 23396983
Variant Present in the following documents:
  • jmedgenet-2012-101270-s2.pdf
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The fraction of strongly bound cross-bridges is increased in mice that carry the myopathy-linked myosin heavy chain mutation MYH4L342Q.

Disease Models & Mechanisms
Lindqvist, Johan J; Iwamoto, Hiroyuki H; Blanco, Gonzalo G; Ochala, Julien J
Publication Date: 2013-05

Variant appearance in text: MYH7: R403W
PubMed Link: 23335206
Variant Present in the following documents:
  • Main text
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Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

Journal Of Cardiac Failure
Kindel, Steven J SJ; Miller, Erin M EM; Gupta, Resmi R; Cripe, Linda H LH; Hinton, Robert B RB; Spicer, Robert L RL; Towbin, Jeffrey A JA; Ware, Stephanie M SM
Publication Date: 2012-05

Variant appearance in text: MYH7: R403W
PubMed Link: 22555271
Variant Present in the following documents:
  • Main text
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High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Bmc Medical Genetics
Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR
Publication Date: 2012-03-19

Variant appearance in text: rs3218714
PubMed Link: 22429680
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-17.pdf
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Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy.

Progress In Pediatric Cardiology
Frazier, Aisha H AH; Ramirez-Correa, Genaro A GA; Murphy, Anne M AM
Publication Date: 2011-01-01

Variant appearance in text: MYH7: R403W
PubMed Link: 21297871
Variant Present in the following documents:
  • Main text
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Insights into human beta-cardiac myosin function from single molecule and single cell studies.

Journal Of Cardiovascular Translational Research
Sivaramakrishnan, Sivaraj S; Ashley, Euan E; Leinwand, Leslie L; Spudich, James A JA
Publication Date: 2009-12

Variant appearance in text: MYH7: R403W
PubMed Link: 20560001
Variant Present in the following documents:
  • Main text
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Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.

Heart Rhythm
Heradien, Marshall M; Revera, Miriam M; van der Merwe, Lize L; Goosen, Althea A; Corfield, Valerie A VA; Brink, Paul A PA; Mayosi, Bongani M BM; Moolman-Smook, Johanna C JC
Publication Date: 2009-11

Variant appearance in text: MYH7: R403W
PubMed Link: 19880069
Variant Present in the following documents:
  • Main text
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Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch.

Cardiovascular Journal Of Africa
Brink, P A PA; Moolman-Smook, J C JC; Corfield, V A VA
Publication Date: 2009

Variant appearance in text: MYH7: R403W
PubMed Link: 19287818
Variant Present in the following documents:
  • Main text
  • cvja-20-57.pdf
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Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy.

Human Genetics
van der Merwe, Lize L; Cloete, Ruben R; Revera, Miriam M; Heradien, Marshall M; Goosen, Althea A; Corfield, Valerie A VA; Brink, Paul A PA; Moolman-Smook, Johanna C JC
Publication Date: 2008-08

Variant appearance in text: MYH7: R403W
PubMed Link: 18560893
Variant Present in the following documents:
  • Main text
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Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression.

Cardiovascular Journal Of Africa
Revera, Miriam M; Van der Merwe, Lize L; Heradien, Marshall M; Goosen, Althea A; Corfield, Valerie A VA; Brink, Paul A PA; Moolman-Smook, Johanna C JC
Publication Date: 2007

Variant appearance in text: MYH7: R403W
PubMed Link: 17612745
Variant Present in the following documents:
  • Main text
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Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

Journal Of Clinical Pathology
Yu, B B; Sawyer, N A NA; Caramins, M M; Yuan, Z G ZG; Saunderson, R B RB; Pamphlett, R R; Richmond, D R DR; Jeremy, R W RW; Trent, R J RJ
Publication Date: 2005-05

Variant appearance in text: MYH7: R403W
PubMed Link: 15858117
Variant Present in the following documents:
  • Main text
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