MYBPC3 c.1483C>T ;(p.R495W)

Variant ID: 11-47364270-G-A

NM_000256.3(MYBPC3):c.1483C>T;(p.R495W)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


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: MYBPC3: 1483C>T; Arg495Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The mechanical cell - the role of force dependencies in synchronising protein interaction networks.

Journal Of Cell Science
Goult, Benjamin T BT; von Essen, Magdaléna M; Hytönen, Vesa P VP
Publication Date: 2022-11-15

Variant appearance in text: cMyBP-C: R495W
PubMed Link: 36398718
Variant Present in the following documents:
  • Main text
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: MYBPC3: 1483C>T; Arg495Trp
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.

Diagnostics (Basel, Switzerland)
Sepp, Róbert R; Hategan, Lidia L; Csányi, Beáta B; Borbás, János J; Tringer, Annamária A; Pálinkás, Eszter Dalma ED; Nagy, Viktória V; Takács, Hedvig H; Latinovics, Dóra D; Nyolczas, Noémi N; Pálinkás, Attila A; Faludi, Réka R; Rábai, Miklós M; Szabó, Gábor Tamás GT; Czuriga, Dániel D; Balogh, László L; Halmosi, Róbert R; Borbély, Attila A; Habon, Tamás T; Hegedűs, Zoltán Z; Nagy, István I
Publication Date: 2022-05-03

Variant appearance in text: MYBPC3: Arg495Trp
PubMed Link: 35626289
Variant Present in the following documents:
  • Main text
  • diagnostics-12-01132.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: MYBPC3: R495W; rs397515905
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 13
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Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3Δ.

International Journal Of Molecular Sciences
Schwäbe, Frederic V FV; Peter, Emanuel K EK; Taft, Manuel H MH; Manstein, Dietmar J DJ
Publication Date: 2021-11-04

Variant appearance in text: MYBPC3: R495W
PubMed Link: 34769381
Variant Present in the following documents:
  • Main text
  • ijms-22-11949.pdf
View BVdb publication page



Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.

Molecular Genetics & Genomic Medicine
Filatova, Elena V EV; Krylova, Natalia S NS; Vlasov, Ivan N IN; Maslova, Maria S MS; Poteshkina, Natalia G NG; Slominsky, Petr A PA; Shadrina, Maria I MI
Publication Date: 2021-11

Variant appearance in text: MYBPC3: R495W; rs397515905
PubMed Link: 34598319
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1808.pdf
View BVdb publication page



Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.

Molecular Genetics & Genomic Medicine
Filatova, Elena V EV; Krylova, Natalia S NS; Vlasov, Ivan N IN; Maslova, Maria S MS; Poteshkina, Natalia G NG; Slominsky, Petr A PA; Shadrina, Maria I MI
Publication Date: 2021-11

Variant appearance in text: MYBPC3: R495W; rs397515905
PubMed Link: 34598319
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1808.pdf
View BVdb publication page



Protein nanomechanics in biological context.

Biophysical Reviews
Alegre-Cebollada, Jorge J
Publication Date: 2021-08

Variant appearance in text: cMyBP-C: R495W
PubMed Link: 34466164
Variant Present in the following documents:
  • 12551_2021_Article_822.pdf
View BVdb publication page



Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

The Journal Of Biological Chemistry
Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J
Publication Date: 2021-07

Variant appearance in text: MYBPC3: 1483C>T
PubMed Link: 34097875
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.xlsx, sheet 1
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: MYBPC3: 1483C>T; Arg495Trp
PubMed Link: 33769460
Variant Present in the following documents:
  • ehab148_supplementary_appendix.pdf
View BVdb publication page



The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: MYBPC3: 1483C>T; R495W; rs397515905
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MYBPC3: R495W
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Circulation. Genomic And Precision Medicine
Helms, Adam S AS; Thompson, Andrea D AD; Glazier, Amelia A AA; Hafeez, Neha N; Kabani, Samat S; Rodriguez, Juliani J; Yob, Jaime M JM; Woolcock, Helen H; Mazzarotto, Francesco F; Lakdawala, Neal K NK; Wittekind, Samuel G SG; Pereira, Alexandre C AC; Jacoby, Daniel L DL; Colan, Steven D SD; Ashley, Euan A EA; Saberi, Sara S; Ware, James S JS; Ingles, Jodie J; Semsarian, Christopher C; Michels, Michelle M; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM
Publication Date: 2020-10

Variant appearance in text: MYBPC3: 1483C>T; Arg495Trp
PubMed Link: 32841044
Variant Present in the following documents:
  • hcg-13-396-s001.pdf
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: MYBPC3: 1483C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.

Journal Of Clinical Medicine
Kim, Hyung Yoon HY; Park, Jong Eun JE; Lee, Sang-Chol SC; Jeon, Eun-Seok ES; On, Young Keun YK; Kim, Sung Mok SM; Choe, Yeon Hyeon YH; Ki, Chang-Seok CS; Kim, Jong-Won JW; Kim, Kye Hun KH
Publication Date: 2020-06-01

Variant appearance in text: MYBPC3: 1483C>T; Arg495Trp
PubMed Link: 32492895
Variant Present in the following documents:
  • Main text
  • jcm-09-01671.pdf
View BVdb publication page



Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation
Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R
Publication Date: 2020-02-04

Variant appearance in text: MYBPC3: 1483C>T; Arg495Trp
PubMed Link: 31983221
Variant Present in the following documents:
  • cir-141-387-s002.xlsx, sheet 3
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: MYBPC3: 1483C>T; Arg495Trp
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation
Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I
Publication Date: 2018-10-02

Variant appearance in text: MYBPC3: 1483C>T; Arg495Trp
PubMed Link: 30297972
Variant Present in the following documents:
  • cir-138-1387-s001.pdf
View BVdb publication page



Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: MYBPC3: 1483C>T; R495W; rs397515905
PubMed Link: 28771489
Variant Present in the following documents:
  • pone.0181465.s002.xlsx, sheet 1
View BVdb publication page



A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

International Journal Of Molecular Sciences
Rubattu, Speranza S; Bozzao, Cristina C; Pennacchini, Ermelinda E; Pagannone, Erika E; Musumeci, Beatrice Maria BM; Piane, Maria M; Germani, Aldo A; Savio, Camilla C; Francia, Pietro P; Volpe, Massimo M; Autore, Camillo C; Chessa, Luciana L
Publication Date: 2016-07-30

Variant appearance in text: MYBPC3: 1483C>T; Arg495Trp; rs397515905
PubMed Link: 27483260
Variant Present in the following documents:
  • Main text
  • ijms-17-01239.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: MYBPC3: R495W
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page



In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Circulation Research
Harris, Samantha P SP; Lyons, Ross G RG; Bezold, Kristina L KL
Publication Date: 2011-03-18

Variant appearance in text: cMyBP-C: R495W
PubMed Link: 21415409
Variant Present in the following documents:
  • Main text
View BVdb publication page