TG c.1207_1208delinsCA ;(p.R403Q)

Variant ID: 8-133898824-AG-CA

NM_003235.4(TG):c.1207_1208delinsCA;(p.R403Q)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: R403Q
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Alteration in tyrosine phosphorylation of cardiac proteome and EGFR pathway contribute to hypertrophic cardiomyopathy.

Communications Biology
Xu, Mingguo M; Bermea, Kevin C KC; Ayati, Marzieh M; Kim, Han Byeol HB; Yang, Xiaomei X; Medina, Andres A; Fu, Zongming Z; Heravi, Amir A; Zhang, Xinyu X; Na, Chan Hyun CH; Everett, Allen D AD; Gabrielson, Kathleen K; Foster, D Brian DB; Paolocci, Nazareno N; Murphy, Anne M AM; Ramirez-Correa, Genaro A GA
Publication Date: 2022-11-15

Variant appearance in text: TG: R403Q
PubMed Link: 36380187
Variant Present in the following documents:
  • 42003_2022_4021_MOESM1_ESM.pdf
View BVdb publication page



Permethrin resistance in Aedes aegypti: Genomic variants that confer knockdown resistance, recovery, and death.

Plos Genetics
Saavedra-Rodriguez, Karla K; Campbell, Corey L CL; Lozano, Saul S; Penilla-Navarro, Patricia P; Lopez-Solis, Alma A; Solis-Santoyo, Francisco F; Rodriguez, Americo D AD; Perera, Rushika R; Black Iv, William C WC
Publication Date: 2021-06

Variant appearance in text: TG: R403Q
PubMed Link: 34138859
Variant Present in the following documents:
  • pgen.1009606.s003.xlsx, sheet 1
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Hepatocardiac or Cardiohepatic Interaction: From Traditional Chinese Medicine to Western Medicine.

Evidence-Based Complementary And Alternative Medicine : Ecam
Zhang, Yaxing Y; Fang, Xian-Ming XM
Publication Date: 2021

Variant appearance in text: TG: R403Q
PubMed Link: 33777158
Variant Present in the following documents:
  • Main text
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Novel insights into sarcomere regulatory systems control of cardiac thin filament activation.

The Journal Of General Physiology
Solís, Christopher C; Solaro, R John RJ
Publication Date: 2021-07-05

Variant appearance in text: TG: R403Q
PubMed Link: 33740037
Variant Present in the following documents:
  • Main text
  • JGP_202012777.pdf
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Novel insights into sarcomere regulatory systems control of cardiac thin filament activation.

The Journal Of General Physiology
Solís, Christopher C; Solaro, R John RJ
Publication Date: 2021-07-05

Variant appearance in text: TG: R403Q
PubMed Link: 33740037
Variant Present in the following documents:
  • Main text
  • JGP_202012777.pdf
View BVdb publication page



Modifications of Sarcoplasmic Reticulum Function Prevent Progression of Sarcomere-Linked Hypertrophic Cardiomyopathy Despite a Persistent Increase in Myofilament Calcium Response.

Frontiers In Physiology
Chowdhury, Shamim A K SAK; Warren, Chad M CM; Simon, Jillian N JN; Ryba, David M DM; Batra, Ashley A; Varga, Peter P; Kranias, Evangelia G EG; Tardiff, Jil C JC; Solaro, R John RJ; Wolska, Beata M BM
Publication Date: 2020

Variant appearance in text: TG: Arg403Gln
PubMed Link: 32210830
Variant Present in the following documents:
  • Main text
  • fphys-11-00107.pdf
View BVdb publication page



Three perspectives on the molecular basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Pflugers Archiv : European Journal Of Physiology
Spudich, James A JA
Publication Date: 2019-05

Variant appearance in text: TG: R403Q
PubMed Link: 30767072
Variant Present in the following documents:
  • 424_2019_Article_2259.pdf
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Histone lysine dimethyl-demethylase KDM3A controls pathological cardiac hypertrophy and fibrosis.

Nature Communications
Zhang, Qing-Jun QJ; Tran, Tram Anh T TAT; Wang, Ming M; Ranek, Mark J MJ; Kokkonen-Simon, Kristen M KM; Gao, Jason J; Luo, Xiang X; Tan, Wei W; Kyrychenko, Viktoriia V; Liao, Lan L; Xu, Jianming J; Hill, Joseph A JA; Olson, Eric N EN; Kass, David A DA; Martinez, Elisabeth D ED; Liu, Zhi-Ping ZP
Publication Date: 2018-12-07

Variant appearance in text: TG: Arg403Gln
PubMed Link: 30531796
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7173.pdf
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Hypertrophic cardiomyopathy R403Q mutation in rabbit β-myosin reduces contractile function at the molecular and myofibrillar levels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lowey, Susan S; Bretton, Vera V; Joel, Peteranne B PB; Trybus, Kathleen M KM; Gulick, James J; Robbins, Jeffrey J; Kalganov, Albert A; Cornachione, Anabelle S AS; Rassier, Dilson E DE
Publication Date: 2018-10-30

Variant appearance in text: TG: R403Q
PubMed Link: 30322937
Variant Present in the following documents:
  • Main text
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: TG: R403Q
PubMed Link: 28606303
Variant Present in the following documents:
  • elife-24634.pdf
View BVdb publication page



Revisiting Frank-Starling: regulatory light chain phosphorylation alters the rate of force redevelopment (ktr ) in a length-dependent fashion.

The Journal Of Physiology
Toepfer, Christopher N CN; West, Timothy G TG; Ferenczi, Michael A MA
Publication Date: 2016-09-15

Variant appearance in text: TG: R403Q
PubMed Link: 27291932
Variant Present in the following documents:
  • TJP-594-5237.pdf
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A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy.

Cell
Davis, Jennifer J; Davis, L Craig LC; Correll, Robert N RN; Makarewich, Catherine A CA; Schwanekamp, Jennifer A JA; Moussavi-Harami, Farid F; Wang, Dan D; York, Allen J AJ; Wu, Haodi H; Houser, Steven R SR; Seidman, Christine E CE; Seidman, Jonathan G JG; Regnier, Michael M; Metzger, Joseph M JM; Wu, Joseph C JC; Molkentin, Jeffery D JD
Publication Date: 2016-05-19

Variant appearance in text: TG: R403Q
PubMed Link: 27114035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a Novel Heart-Liver Axis: Matrix Metalloproteinase-2 Negatively Regulates Cardiac Secreted Phospholipase A2 to Modulate Lipid Metabolism and Inflammation in the Liver.

Journal Of The American Heart Association
Hernandez-Anzaldo, Samuel S; Berry, Evan E; Brglez, Vesna V; Leung, Dickson D; Yun, Tae Jin TJ; Lee, Jun Seong JS; Filep, Janos G JG; Kassiri, Zamaneh Z; Cheong, Cheolho C; Lambeau, Gérard G; Lehner, Richard R; Fernandez-Patron, Carlos C
Publication Date: 2015-11-13

Variant appearance in text: TG: R403Q
PubMed Link: 26567374
Variant Present in the following documents:
  • Main text
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: TG: R403Q
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



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: TG: R403Q
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Metabolic crosstalk between the heart and liver impacts familial hypertrophic cardiomyopathy.

Embo Molecular Medicine
Magida, Jason A JA; Leinwand, Leslie A LA
Publication Date: 2014-04

Variant appearance in text: TG: R403Q
PubMed Link: 24567073
Variant Present in the following documents:
  • Main text
  • emmm0006-0482.pdf
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Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences.

The Journal Of Biological Chemistry
Lowey, Susan S; Bretton, Vera V; Gulick, James J; Robbins, Jeffrey J; Trybus, Kathleen M KM
Publication Date: 2013-05-24

Variant appearance in text: TG: R403Q
PubMed Link: 23580644
Variant Present in the following documents:
  • Main text
View BVdb publication page



Micro-RNA-195 and -451 regulate the LKB1/AMPK signaling axis by targeting MO25.

Plos One
Chen, Hao H; Untiveros, Gustavo M GM; McKee, Laurel A K LA; Perez, Jessica J; Li, Jing J; Antin, Parker B PB; Konhilas, John P JP
Publication Date: 2012

Variant appearance in text: TG: R403Q
PubMed Link: 22844503
Variant Present in the following documents:
  • pone.0041574.pdf
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Long-term rescue of a familial hypertrophic cardiomyopathy caused by a mutation in the thin filament protein, tropomyosin, via modulation of a calcium cycling protein.

Journal Of Molecular And Cellular Cardiology
Gaffin, Robert D RD; Peña, James R JR; Alves, Marco S L MS; Dias, Fernando A L FA; Chowdhury, Shamim A K SA; Heinrich, Lynley S LS; Goldspink, Paul H PH; Kranias, Evangelia G EG; Wieczorek, David F DF; Wolska, Beata M BM
Publication Date: 2011-11

Variant appearance in text: TG: R403Q
PubMed Link: 21840315
Variant Present in the following documents:
  • Main text
View BVdb publication page



What we know and do not know about sex and cardiac disease.

Journal Of Biomedicine & Biotechnology
Konhilas, John P JP
Publication Date: 2010

Variant appearance in text: TG: R403Q
PubMed Link: 20445744
Variant Present in the following documents:
  • Main text
  • JBB2010-562051.pdf
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Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backbone.

The Journal Of Biological Chemistry
Lowey, Susan S; Lesko, Leanne M LM; Rovner, Arthur S AS; Hodges, Alex R AR; White, Sheryl L SL; Low, Robert B RB; Rincon, Mercedes M; Gulick, James J; Robbins, Jeffrey J
Publication Date: 2008-07-18

Variant appearance in text: TG: R403Q
PubMed Link: 18480046
Variant Present in the following documents:
  • Main text
View BVdb publication page