SCN5A c.5701G>C ;(p.E1901Q)

Variant ID: 3-38592159-C-G

NM_000335.4(SCN5A):c.5701G>C;(p.E1901Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Ca2+-dependent modulation of voltage-gated myocyte sodium channels.

Biochemical Society Transactions
Salvage, Samantha C SC; Habib, Zaki F ZF; Matthews, Hugh R HR; Jackson, Antony P AP; Huang, Christopher L-H CL
Publication Date: 2021-11-01

Variant appearance in text: LQT3: E1901Q
PubMed Link: 34643236
Variant Present in the following documents:
  • Main text
  • BST-49-1941.pdf
View BVdb publication page



Calmodulin Interactions with Voltage-Gated Sodium Channels.

International Journal Of Molecular Sciences
Wu, Xin X; Hong, Liang L
Publication Date: 2021-09-10

Variant appearance in text: LQT3: E1901Q
PubMed Link: 34575961
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fibroblast growth factor homologous factors tune arrhythmogenic late NaV1.5 current in calmodulin binding-deficient channels.

Jci Insight
Abrams, Jeffrey J; Roybal, Daniel D; Chakouri, Nourdine N; Katchman, Alexander N AN; Weinberg, Richard R; Yang, Lin L; Chen, Bi-Xing BX; Zakharov, Sergey I SI; Hennessey, Jessica A JA; Avula, Uma Mahesh R UMR; Diaz, Johanna J; Wang, Chaojian C; Wan, Elaine Y EY; Pitt, Geoffrey S GS; Ben-Johny, Manu M; Marx, Steven O SO
Publication Date: 2020-10-02

Variant appearance in text: LQT3: E1901Q
PubMed Link: 32870823
Variant Present in the following documents:
  • Main text
  • jciinsight-5-141736.pdf
View BVdb publication page



Crystal structures of Ca2+-calmodulin bound to NaV C-terminal regions suggest role for EF-hand domain in binding and inactivation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gardill, Bernd R BR; Rivera-Acevedo, Ricardo E RE; Tung, Ching-Chieh CC; Van Petegem, Filip F
Publication Date: 2019-05-28

Variant appearance in text: Nav1.5: E1901Q
PubMed Link: 31072926
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple mechanisms underlie increased cardiac late sodium current.

Heart Rhythm
Kroncke, Brett M BM; Yang, Tao T; Roden, Dan M DM
Publication Date: 2019-07

Variant appearance in text: LQT3: E1901Q
PubMed Link: 30677491
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
Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A
Publication Date: 2019-01-18

Variant appearance in text: LQT3: E1901Q
PubMed Link: 30669290
Variant Present in the following documents:
  • Main text
  • ijms-20-00400.pdf
View BVdb publication page



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

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: LQT3: E1901Q
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



Calmodulin limits pathogenic Na+ channel persistent current.

The Journal Of General Physiology
Yan, Haidun H; Wang, Chaojian C; Marx, Steven O SO; Pitt, Geoffrey S GS
Publication Date: 2017-02

Variant appearance in text: LQT3: E1901Q
PubMed Link: 28087622
Variant Present in the following documents:
  • Main text
View BVdb publication page