Variant ID: 3-38592386-C-T

NM_198056.2(SCN5A):c.5477G>A;(p.Arg1826His)

This variant was identified in 19 publications




Publications:


Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.

Iscience
W Dong, SC Jin, A Allocco, X Zeng, AH Sheth, S Panchagnula, A Castonguay, LÉ Lorenzo, B Islam, G Brindle, K Bachand, J Hu, A Sularz, J Gaillard, J Choi, A Dunbar, C Nelson-Williams, E Kiziltug, CG Furey, S Conine, PQ Duy, AJ Kundishora, E Loring, B Li, Q Lu, G Zhou, W Liu, X Li, MC Sierant, S Mane, C Castaldi, F López-Giráldez, JR Knight, RF Sekula, JM Simard, EN Eskandar, C Gottschalk, J Moliterno, M Günel, JL Gerrard, S Dib-Hajj, SG Waxman, FG Barker, SL Alper, M Chahine, S Haider, Y De Koninck, RP Lifton, KT Kahle
Publication Date: 2020-10-23

Variant appearance in text: Nav1.5: Arg1826His
PubMed Link: 33083721
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences
J Urrutia, A Aguado, A Muguruza-Montero, E Núñez, C Malo, O Casis, A Villarroel
Publication Date: 2019-01-18

Variant appearance in text: LQT3: R1826H
PubMed Link: 30669290
Variant Present in the following documents:
  • Main text
View BVdb publication page



SCN5A Variants: Association With Cardiac Disorders.

Frontiers In Physiology
W Li, L Yin, C Shen, K Hu, J Ge, A Sun
Publication Date: 2018

Variant appearance in text: LQT3: R1826H
PubMed Link: 30364184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science
MJ Son, MK Kim, KM Yang, BH Choi, BW Lee, SH Yoo
Publication Date: 2018-08-06

Variant appearance in text: SCN5A: R1826H
PubMed Link: 30079003
Variant Present in the following documents:
  • Main text
View BVdb publication page



The voltage-gated sodium channel EF-hands form an interaction with the III-IV linker that is disturbed by disease-causing mutations.

Scientific Reports
BR Gardill, RE Rivera-Acevedo, CC Tung, M Okon, LP McIntosh, F Van Petegem
Publication Date: 2018-03-14

Variant appearance in text: LQT3: R1826H
PubMed Link: 29540853
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)
NS Ioakeimidis, T Papamitsou, S Meditskou, Z Iakovidou-Kritsi
Publication Date: 2017-12

Variant appearance in text: SCN5A: R1826H
PubMed Link: 28316956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
W Huang, M Liu, SF Yan, N Yan
Publication Date: 2017-06

Variant appearance in text: LQT3: R1826H
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page



Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
Publication Date: 2016-03

Variant appearance in text: SCN5A: Arg1826His; rs137854610
PubMed Link: 27077130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology
G Loussouarn, D Sternberg, S Nicole, C Marionneau, F Le Bouffant, G Toumaniantz, J Barc, OA Malak, V Fressart, Y Péréon, I Baró, F Charpentier
Publication Date: 2015

Variant appearance in text: LQT3: R1826H
PubMed Link: 26834636
Variant Present in the following documents:
  • Main text
View BVdb publication page



Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Genome Medicine
A Patwardhan, J Harris, N Leng, G Bartha, DM Church, S Luo, C Haudenschild, M Pratt, J Zook, M Salit, J Tirch, M Morra, S Chervitz, M Li, M Clark, S Garcia, G Chandratillake, S Kirk, E Ashley, M Snyder, R Altman, C Bustamante, AJ Butte, J West, R Chen
Publication Date: 2015

Variant appearance in text: rs137854610
PubMed Link: 26269718
Variant Present in the following documents:
  • 13073_2015_197_MOESM8_ESM.xlsx
View BVdb publication page



Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.

Plos One
RM Hu, BH Tan, DJ Tester, C Song, Y He, S Dovat, BZ Peterson, MJ Ackerman, JC Makielski
Publication Date: 2015

Variant appearance in text: LQT3: R1826H
PubMed Link: 25923670
Variant Present in the following documents:
  • Main text
View BVdb publication page



PATH-SCAN: a reporting tool for identifying clinically actionable variants.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
R Daneshjou, Z Zappala, K Kukurba, SM Boyle, KE Ormond, TE Klein, M Snyder, CD Bustamante, RB Altman, SB Montgomery
Publication Date: 2014

Variant appearance in text: rs137854610
PubMed Link: 24297550
Variant Present in the following documents:
  • Main text
View BVdb publication page



Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American Journal Of Human Genetics
MO Dorschner, LM Amendola, EH Turner, PD Robertson, BH Shirts, CJ Gallego, RL Bennett, KL Jones, MJ Tokita, JT Bennett, JH Kim, EA Rosenthal, DS Kim, , HK Tabor, MJ Bamshad, AG Motulsky, CR Scott, CC Pritchard, T Walsh, W Burke, WH Raskind, P Byers, FM Hisama, DA Nickerson, GP Jarvik
Publication Date: 2013-10-03

Variant appearance in text: SCN5A: 5477G>A; Arg1826His; rs137854610
PubMed Link: 24055113
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology
R Wilders
Publication Date: 2012

Variant appearance in text: SCN5A: R1826H
PubMed Link: 23304551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Heart Rhythm
JD Kapplinger, DJ Tester, BA Salisbury, JL Carr, C Harris-Kerr, GD Pollevick, AA Wilde, MJ Ackerman
Publication Date: 2009-09

Variant appearance in text: SCN5A: R1826H
PubMed Link: 19716085
Variant Present in the following documents:
  • NIHMS267562-supplement-Supplemental_Data.doc
View BVdb publication page



Solution structure of the NaV1.2 C-terminal EF-hand domain.

The Journal Of Biological Chemistry
VZ Miloushev, JA Levine, MA Arbing, JF Hunt, GS Pitt, AG Palmer
Publication Date: 2009-03-06

Variant appearance in text: LQT3: R1826H
PubMed Link: 19129176
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sudden infant death syndrome: do ion channels play a role?

Heart Rhythm
DW Van Norstrand, MJ Ackerman
Publication Date: 2009-02

Variant appearance in text: SCN5A: R1826H
PubMed Link: 18823823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

Heart Rhythm
LB Cronk, B Ye, T Kaku, DJ Tester, M Vatta, JC Makielski, MJ Ackerman
Publication Date: 2007-02

Variant appearance in text: LQT3: R1826H
PubMed Link: 17275750
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Na+ channel inactivation gate is a molecular complex: a novel role of the COOH-terminal domain.

The Journal Of General Physiology
HK Motoike, H Liu, IW Glaaser, AS Yang, M Tateyama, RS Kass
Publication Date: 2004-02

Variant appearance in text: SCN5A: R1826H
PubMed Link: 14744988
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000333535.4 c.5477G>A p.Arg1826His missense_variant 28/28 -
ENST00000413689.1 c.5477G>A p.Arg1826His missense_variant 28/28 -
ENST00000414099.2 c.5423G>A p.Arg1808His missense_variant 26/26 -
ENST00000423572.2 c.5474G>A p.Arg1825His missense_variant 27/27 -
ENST00000425664.1 c.5423G>A p.Arg1808His missense_variant 27/27 -
ENST00000443581.1 c.5474G>A p.Arg1825His missense_variant 28/28 -
ENST00000449557.2 c.5315G>A p.Arg1772His missense_variant 26/26 -
ENST00000450102.2 c.5315G>A p.Arg1772His missense_variant 26/26 -
ENST00000451551.2 c.5315G>A p.Arg1772His missense_variant 27/27 -
ENST00000455624.2 c.5378G>A p.Arg1793His missense_variant 27/27 -
NM_000335.4 c.5474G>A p.Arg1825His missense_variant 28/28 -
NM_001099404.1 c.5477G>A p.Arg1826His missense_variant 28/28 -
NM_001099405.1 c.5423G>A p.Arg1808His missense_variant 27/27 -
NM_001160160.2 c.5378G>A p.Arg1793His missense_variant 28/28 -
NM_001160161.1 c.5315G>A p.Arg1772His missense_variant 27/27 -
NM_001354701.2 c.5420G>A p.Arg1807His missense_variant 27/27 -
NM_198056.2 c.5477G>A p.Arg1826His missense_variant 28/28 -