SCN5A c.1673A>G ;(p.H558R)

Variant ID: 3-38645420-T-C

NM_000335.4(SCN5A):c.1673A>G;(p.H558R)

This variant was identified in 246 publications

View GRCh38 version.




Publications:


Circumstance-dependent functional variants in the major long QT syndrome genes in patients with recurrent polymorphic ventricular arrhythmias: A case series.

Heartrhythm Case Reports
van Bakel, Bram M A BMA; Kerstens, Thijs P TP; Arts, Ieva I; Evertz, Reinder R; Beukema, Rypko R; Boulaksil, Mohamed M
Publication Date: 2023-05

Variant appearance in text: SCN5A: H558R
PubMed Link: 37324972
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Pharmacological treatment of short-coupled idiopathic ventricular fibrillation: A review.

Indian Pacing And Electrophysiology Journal
Bergeman, A T AT; Postema, P G PG; Wilde, A A M AAM; van der Werf, C C
Publication Date: 2023-03-16

Variant appearance in text: SCN5A: H558R
PubMed Link: 36933619
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Genetic Biomarkers of Antipsychotic-Induced Prolongation of the QT Interval in Patients with Schizophrenia.

International Journal Of Molecular Sciences
Vaiman, Elena E EE; Shnayder, Natalia A NA; Zhuravlev, Nikita M NM; Petrova, Marina M MM; Asadullin, Azat R AR; Al-Zamil, Mustafa M; Garganeeva, Natalia P NP; Shipulin, German A GA; Cumming, Paul P; Nasyrova, Regina F RF
Publication Date: 2022-12-13

Variant appearance in text: rs1805124
PubMed Link: 36555428
Variant Present in the following documents:
  • Main text
  • ijms-23-15786.pdf
View BVdb publication page



SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse.

International Journal Of Molecular Sciences
Jaouadi, Hager H; Théron, Alexis A; Hourdain, Jérôme J; Martel, Hélène H; Nguyen, Karine K; Habachi, Raja R; Deharo, Jean-Claude JC; Collart, Frédéric F; Avierinos, Jean-François JF; Zaffran, Stéphane S
Publication Date: 2022-11-21

Variant appearance in text: SCN5A: H558R
PubMed Link: 36430924
Variant Present in the following documents:
  • Main text
  • ijms-23-14447.pdf
View BVdb publication page



Risk factors and SCN5A-H558R polymorphism for atrial fibrillation in Tibetans living at different altitudes.

Medicine
An, Renfang R; Liu, Jiang J; Zhang, Jinwei J; Yao, Fengcai F; Tian, Dekuan D; Liang, Fuli F; Li, Wenqiang W; Li, Delian D; Wang, Yiqi Y; Yan, Sai S; Yang, Qijuan Q; Zhang, Yajie Y; Su, Xiaoling X
Publication Date: 2022-11-18

Variant appearance in text: SCN5A: h558r
PubMed Link: 36401443
Variant Present in the following documents:
  • Main text
  • medi-101-e31778.pdf
View BVdb publication page



A Case Report of Genetic Cascade Screening in Dilated Cardiomyopathy: A Perspective for Preventive Cardiology.

Iranian Journal Of Public Health
Barati, Zeinab Z; Farhoud, Dariush D; Nixdorff, Uwe U; Mohammadhasani, Mohammadreza M; Eslami, Maryam M; Nayernia, Karim K
Publication Date: 2021-12

Variant appearance in text: SCN5A: 1673A>G; His558Arg; rs1805124
PubMed Link: 36317039
Variant Present in the following documents:
  • Main text
  • IJPH-50-2593.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: SCN5A: H558R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: SCN5A: H558R
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).

Peerj
Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L
Publication Date: 2022

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 35996667
Variant Present in the following documents:
  • Main text
  • peerj-10-13913.pdf
View BVdb publication page



The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease.

Frontiers In Cardiovascular Medicine
Wang, Mengru M; Tu, Xin X
Publication Date: 2022

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 35783865
Variant Present in the following documents:
  • Main text
  • fcvm-09-891399.pdf
View BVdb publication page



Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.

Genes
Zaklyazminskaya, Elena E; Polyak, Margarita M; Shestak, Anna A; Sadekova, Mariam M; Komoliatova, Vera V; Kiseleva, Irina I; Makarov, Leonid L; Podolyak, Dmitriy D; Glukhov, Grigory G; Zhang, Han H; Abramochkin, Denis D; Sokolova, Olga S OS
Publication Date: 2022-03-22

Variant appearance in text: SCN5A: H558R
PubMed Link: 35456365
Variant Present in the following documents:
  • genes-13-00559.pdf
View BVdb publication page



Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations.

Frontiers In Genetics
Tian, Shulan S; Tu, Zheng Jin ZJ; Yan, Huihuang H; Klee, Eric W EW
Publication Date: 2022

Variant appearance in text: SCN5A: H558R
PubMed Link: 35432455
Variant Present in the following documents:
  • fgene-13-896032.pdf
View BVdb publication page



Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.

Annals Of Translational Medicine
Shen, Cheng C; Xu, Lei L; Sun, Xiaoning X; Sun, Aijun A; Ge, Junbo J
Publication Date: 2022-02

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 35284542
Variant Present in the following documents:
  • Main text
  • atm-10-03-129-supplementary.pdf
  • atm-10-03-129.pdf
View BVdb publication page



Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences
Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D
Publication Date: 2022-01-26

Variant appearance in text: SCN5A: H558R
PubMed Link: 35163304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences
Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D
Publication Date: 2022-01-26

Variant appearance in text: SCN5A: H558R
PubMed Link: 35163304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.

Bmc Cardiovascular Disorders
Malakootian, Mahshid M; Jalilian, Masoumeh M; Kalayinia, Samira S; Hosseini Moghadam, Maryam M; Heidarali, Mona M; Haghjoo, Majid M
Publication Date: 2022-02-11

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 35148685
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.

Bmc Cardiovascular Disorders
Malakootian, Mahshid M; Jalilian, Masoumeh M; Kalayinia, Samira S; Hosseini Moghadam, Maryam M; Heidarali, Mona M; Haghjoo, Majid M
Publication Date: 2022-02-11

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 35148685
Variant Present in the following documents:
  • Main text
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: SCN5A: H558R; rs1805124
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines
Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G
Publication Date: 2022-01-05

Variant appearance in text: LQT3: H558R
PubMed Link: 35052786
Variant Present in the following documents:
  • Main text
  • biomedicines-10-00106.pdf
View BVdb publication page



Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines
Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G
Publication Date: 2022-01-05

Variant appearance in text: LQT3: H558R
PubMed Link: 35052786
Variant Present in the following documents:
  • Main text
  • biomedicines-10-00106.pdf
View BVdb publication page



Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN5A: H558R
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Journal Of The American Heart Association
Khan, Rabia S RS; Pahl, Elfriede E; Dellefave-Castillo, Lisa L; Rychlik, Karen K; Ing, Alexander A; Yap, Kai Lee KL; Brew, Casey C; Johnston, Jamie R JR; McNally, Elizabeth M EM; Webster, Gregory G
Publication Date: 2022-01-04

Variant appearance in text: SCN5A: 1673A>G; His558Arg
PubMed Link: 34935411
Variant Present in the following documents:
  • JAH3-11-e022854-s001.pdf
  • JAH3-11-e022854.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: SCN5A: 1673A>G; H558R; rs1805124
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: SCN5A: 1673A>G; H558R; rs1805124
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Brugada Syndrome: Warning of a Systemic Condition?

Frontiers In Cardiovascular Medicine
D'Imperio, Sara S; Monasky, Michelle M MM; Micaglio, Emanuele E; Ciconte, Giuseppe G; Anastasia, Luigi L; Pappone, Carlo C
Publication Date: 2021

Variant appearance in text: SCN5A: H558R
PubMed Link: 34722688
Variant Present in the following documents:
  • fcvm-08-771349.pdf
View BVdb publication page



Analysis of Very Important Pharmacogenomics Variants in the Chinese Lahu Population.

Pharmacogenomics And Personalized Medicine
Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Ding, Heng H; Chen, Wanlu W; Dai, Run R; Zhang, Chan C
Publication Date: 2021

Variant appearance in text: rs1805124
PubMed Link: 34629888
Variant Present in the following documents:
  • Main text
View BVdb publication page



Privacy-preserving storage of sequenced genomic data.

Bmc Genomics
Hekel, Rastislav R; Budis, Jaroslav J; Kucharik, Marcel M; Radvanszky, Jan J; Pös, Zuzana Z; Szemes, Tomas T
Publication Date: 2021-10-02

Variant appearance in text: rs1805124
PubMed Link: 34600465
Variant Present in the following documents:
  • Main text
  • 12864_2021_Article_7996.pdf
View BVdb publication page



Editorial: Inherited Arrhythmias of the Cardiac Sodium Channel Nav1.5.

Frontiers In Physiology
Amarouch, Mohamed-Yassine MY; Zaklyazminskaya, Elena V EV; Rougier, Jean-Sébastien JS
Publication Date: 2021

Variant appearance in text: SCN5A: H558R
PubMed Link: 34421659
Variant Present in the following documents:
  • Main text
  • fphys-12-716553.pdf
View BVdb publication page



Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.

International Journal Of Molecular Sciences
Balla, Cristina C; Conte, Elena E; Selvatici, Rita R; Marsano, Renè Massimiliano RM; Gerbino, Andrea A; Farnè, Marianna M; Blunck, Rikard R; Vitali, Francesco F; Armaroli, Annarita A; Brieda, Alessandro A; Liantonio, Antonella A; De Luca, Annamaria A; Ferlini, Alessandra A; Rapezzi, Claudio C; Bertini, Matteo M; Gualandi, Francesca F; Imbrici, Paola P
Publication Date: 2021-06-17

Variant appearance in text: SCN5A: H558R
PubMed Link: 34204499
Variant Present in the following documents:
  • Main text
  • ijms-22-06513.pdf
View BVdb publication page



Long QT syndrome - Bench to bedside.

Heart Rhythm O2
Ponce-Balbuena, Daniela D; Deschênes, Isabelle I
Publication Date: 2021-02

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 34113909
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: SCN5A: 1673A>G; H558R; rs1805124
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: SCN5A: 1673A>G; His558Arg; rs1805124
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.

Human Mutation
Lopes-Marques, Mónica M; Pacheco, Ana Rita AR; Peixoto, Maria João MJ; Cardoso, Ana Rita AR; Serrano, Catarina C; Amorim, António A; Prata, Maria João MJ; Cooper, David N DN; Azevedo, Luísa L
Publication Date: 2021-08

Variant appearance in text: SCN5A: 1673A>G; His558Arg
PubMed Link: 34015158
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.

Human Mutation
Lopes-Marques, Mónica M; Pacheco, Ana Rita AR; Peixoto, Maria João MJ; Cardoso, Ana Rita AR; Serrano, Catarina C; Amorim, António A; Prata, Maria João MJ; Cooper, David N DN; Azevedo, Luísa L
Publication Date: 2021-08

Variant appearance in text: SCN5A: 1673A>G; His558Arg
PubMed Link: 34015158
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Heart Failure-Associated SCN5A Splice Variant Leads to a Reduction in Sodium Current Through Coupled-Gating With the Wild-Type Channel.

Frontiers In Physiology
Zheng, Yang Y; Wan, Xiaoping X; Yang, Dandan D; Ramirez-Navarro, Angelina A; Liu, Haiyan H; Fu, Ji-Dong JD; Deschênes, Isabelle I
Publication Date: 2021

Variant appearance in text: SCN5A: H558R
PubMed Link: 33828490
Variant Present in the following documents:
  • Main text
  • fphys-12-661429.pdf
View BVdb publication page



The epidemiological status, environmental and genetic factors in the etiology of Keshan disease.

Cardiovascular Endocrinology & Metabolism
Yan, Chao C; Luo, Rong R; Li, Feng F; Liu, Mingjiang M; Li, Jinshu J; Hua, Wei W; Li, Xiaoping X
Publication Date: 2021-03

Variant appearance in text: SCN5A: H558R
PubMed Link: 33634251
Variant Present in the following documents:
  • Main text
View BVdb publication page



Territory-wide cohort study of Brugada syndrome in Hong Kong: predictors of long-term outcomes using random survival forests and non-negative matrix factorisation.

Open Heart
Lee, Sharen S; Zhou, Jiandong J; Li, Ka Hou Christien KHC; Leung, Keith Sai Kit KSK; Lakhani, Ishan I; Liu, Tong T; Wong, Ian Chi Kei ICK; Mok, Ngai Shing NS; Mak, Chloe C; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Tse, Gary G
Publication Date: 2021-02

Variant appearance in text: SCN5A: 1673A>G; H558R
PubMed Link: 33547222
Variant Present in the following documents:
  • openhrt-2020-001505supp001.pdf
View BVdb publication page



Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.

Channels (Austin, Tex.)
Hu, Rou-Mu RM; Song, Evelyn J EJ; Tester, David J DJ; Deschenes, Isabelle I; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Tan, Bi-Hua BH
Publication Date: 2021-12

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 33535892
Variant Present in the following documents:
  • Main text
  • KCHL_15_1875645.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: SCN5A: 1673A>G; His558Arg; rs1805124
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Life Cycle of the Cardiac Voltage-Gated Sodium Channel NaV1.5.

Frontiers In Physiology
Dong, Caijuan C; Wang, Ya Y; Ma, Aiqun A; Wang, Tingzhong T
Publication Date: 2020

Variant appearance in text: SCN5A: H558R
PubMed Link: 33391024
Variant Present in the following documents:
  • Main text
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Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation.

The Journal Of General Physiology
Nathan, Sara S; Gabelli, Sandra B SB; Yoder, Jesse B JB; Srinivasan, Lakshmi L; Aldrich, Richard W RW; Tomaselli, Gordon F GF; Ben-Johny, Manu M; Amzel, L Mario LM
Publication Date: 2021-01-04

Variant appearance in text: LQT3: H558R
PubMed Link: 33306788
Variant Present in the following documents:
  • Main text
  • JGP_202012722.pdf
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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: rs1805124
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
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Role of Non-Coding Variants in Brugada Syndrome.

International Journal Of Molecular Sciences
Pérez-Agustín, Adrian A; Pinsach-Abuin, Mel Lina ML; Pagans, Sara S
Publication Date: 2020-11-13

Variant appearance in text: SCN5A: H558R; rs1805124
PubMed Link: 33202810
Variant Present in the following documents:
  • Main text
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