Variant ID: 3-38592986-C-G

NM_198056.2(SCN5A):c.4877G>C;(p.Arg1626Pro)

This variant was identified in 15 publications




Publications:


Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
KR Brewer, G Kuenze, CG Vanoye, AL George, J Meiler, CR Sanders
Publication Date: 2020

Variant appearance in text: SCN5A: R1626P
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



How to Boost Efficacy of a Sodium Channel Blocker: The Devil Is in the Details.

Jacc. Basic To Translational Science
MB Nowak, VM Phadumdeo, SH Weinberg
Publication Date: 2019-10

Variant appearance in text: LQT3: R1626P
PubMed Link: 31713545
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A Molecularly Detailed NaV1.5 Model Reveals a New Class I Antiarrhythmic Target.

Jacc. Basic To Translational Science
JD Moreno, W Zhu, K Mangold, W Chung, JR Silva
Publication Date: 2019-10

Variant appearance in text: LQT3: R1626P
PubMed Link: 31709321
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Channels (Austin, Tex.)
T Nakajima, Y Kaneko, T Dharmawan, M Kurabayashi
Publication Date: 2019-12

Variant appearance in text: SCN5A: R1626P
PubMed Link: 31357904
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting Patient Response to the Antiarrhythmic Mexiletine Based on Genetic Variation.

Circulation Research
W Zhu, A Mazzanti, TL Voelker, P Hou, JD Moreno, P Angsutararux, KM Naegle, SG Priori, JR Silva
Publication Date: 2019-02-15

Variant appearance in text: LQT3: R1626P
PubMed Link: 30566038
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

American Journal Of Human Genetics
N Shah, YC Hou, HC Yu, R Sainger, CT Caskey, JC Venter, A Telenti
Publication Date: 2018-04-05

Variant appearance in text: rs199473283
PubMed Link: 29625023
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
View BVdb publication page



Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.

Pflugers Archiv : European Journal Of Physiology
KR Chadda, K Jeevaratnam, M Lei, CL Huang
Publication Date: 2017-06

Variant appearance in text: SCN5A: R1626P
PubMed Link: 28265756
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: R1626P
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: rs199473283
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: R1626P
PubMed Link: 26834636
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders
EL Stattin, IM Boström, A Winbo, K Cederquist, J Jonasson, BA Jonsson, UB Diamant, SM Jensen, A Rydberg, A Norberg
Publication Date: 2012-10-25

Variant appearance in text: SCN5A: 4877G>C; R1626P
PubMed Link: 23098067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathophysiological role of omega pore current in channelopathies.

Frontiers In Pharmacology
K Jurkat-Rott, J Groome, F Lehmann-Horn
Publication Date: 2012

Variant appearance in text: SCN5A: R1626P
PubMed Link: 22701429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Voltage-gated channel mechanosensitivity: fact or friction?

Frontiers In Physiology
CE Morris
Publication Date: 2011

Variant appearance in text: Nav1.5: R1626P
PubMed Link: 21660289
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanosensitivity of Nav1.5, a voltage-sensitive sodium channel.

The Journal Of Physiology
A Beyder, JL Rae, C Bernard, PR Strege, F Sachs, G Farrugia
Publication Date: 2010-12-15

Variant appearance in text: LQT3: R1626P
PubMed Link: 21041530
Variant Present in the following documents:
  • Main text
  • tjp0588-4969.pdf
View BVdb publication page



Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

The Journal Of Clinical Investigation
BW Jarecki, AD Piekarz, JO Jackson, TR Cummins
Publication Date: 2010-01

Variant appearance in text: Nav1.5: R1626P
PubMed Link: 20038812
Variant Present in the following documents:
  • JCI40801sd.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000333535.4 c.4877G>C p.Arg1626Pro missense_variant 28/28 -
ENST00000413689.1 c.4877G>C p.Arg1626Pro missense_variant 28/28 -
ENST00000414099.2 c.4823G>C p.Arg1608Pro missense_variant 26/26 -
ENST00000423572.2 c.4874G>C p.Arg1625Pro missense_variant 27/27 -
ENST00000425664.1 c.4823G>C p.Arg1608Pro missense_variant 27/27 -
ENST00000443581.1 c.4874G>C p.Arg1625Pro missense_variant 28/28 -
ENST00000449557.2 c.4715G>C p.Arg1572Pro missense_variant 26/26 -
ENST00000450102.2 c.4715G>C p.Arg1572Pro missense_variant 26/26 -
ENST00000451551.2 c.4715G>C p.Arg1572Pro missense_variant 27/27 -
ENST00000455624.2 c.4778G>C p.Arg1593Pro missense_variant 27/27 -
NM_000335.4 c.4874G>C p.Arg1625Pro missense_variant 28/28 -
NM_001099404.1 c.4877G>C p.Arg1626Pro missense_variant 28/28 -
NM_001099405.1 c.4823G>C p.Arg1608Pro missense_variant 27/27 -
NM_001160160.2 c.4778G>C p.Arg1593Pro missense_variant 28/28 -
NM_001160161.1 c.4715G>C p.Arg1572Pro missense_variant 27/27 -
NM_001354701.2 c.4820G>C p.Arg1607Pro missense_variant 27/27 -
NM_198056.2 c.4877G>C p.Arg1626Pro missense_variant 28/28 -