SCN5A c.1675A>G ;(p.T559A)

Variant ID: 3-38645418-T-C

NM_000335.4(SCN5A):c.1675A>G;(p.T559A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calmodulin binds to the N-terminal domain of the cardiac sodium channel Nav1.5.

Channels (Austin, Tex.)
Wang, Zizun Z; Vermij, Sarah H SH; Sottas, Valentin V; Shestak, Anna A; Ross-Kaschitza, Daniela D; Zaklyazminskaya, Elena V EV; Hudmon, Andy A; Pitt, Geoffrey S GS; Rougier, Jean-Sébastien JS; Abriel, Hugues H
Publication Date: 2020-12

Variant appearance in text: SCN5A: T559A
PubMed Link: 32815768
Variant Present in the following documents:
  • Main text
  • KCHL_14_1805999.pdf
View BVdb publication page



Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports
Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA
Publication Date: 2018-08-24

Variant appearance in text: SCN5A: T559A
PubMed Link: 30143662
Variant Present in the following documents:
  • Main text
  • 41598_2018_30577_MOESM1_ESM.pdf
  • 41598_2018_Article_30577.pdf
View BVdb publication page