SCN4A c.1762A>G ;(p.I588V)

Variant ID: 17-62038636-T-C

NM_000334.4(SCN4A):c.1762A>G;(p.I588V)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Ageing contributes to phenotype transition in a mouse model of periodic paralysis.

Jcsm Rapid Communications
Suetterlin, Karen J KJ; Tan, S Veronica SV; Mannikko, Roope R; Phadke, Rahul R; Orford, Michael M; Eaton, Simon S; Sayer, Avan A AA; Grounds, Miranda D MD; Matthews, Emma E; Greensmith, Linda L; Hanna, Michael G MG
Publication Date: 2021

Variant appearance in text: Nav1.4: I588V
PubMed Link: 35174322
Variant Present in the following documents:
  • Main text
  • RCO2-4-245.pdf
View BVdb publication page



Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Journal Of Neuromuscular Diseases
Desaphy, Jean-François JF; Altamura, Concetta C; Vicart, Savine S; Fontaine, Bertrand B
Publication Date: 2021

Variant appearance in text: SCN4A: I588V
PubMed Link: 33325393
Variant Present in the following documents:
  • Main text
  • jnd-8-jnd200582.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: HYPP: I588V
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: SCN4A: I588V
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Physiological basis for muscle stiffness and weakness in a knock-in M1592V mouse model of hyperkalemic periodic paralysis.

Physiological Reports
Khogali, Shiemaa S; Lucas, Brooke B; Ammar, Tarek T; Dejong, Danica D; Barbalinardo, Michael M; Hayward, Lawrence J LJ; Renaud, Jean-Marc JM
Publication Date: 2015-12

Variant appearance in text: Nav1.4: I588V
PubMed Link: 26702073
Variant Present in the following documents:
  • Main text
  • PHY2-3-e12656.pdf
View BVdb publication page



Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.

Frontiers In Physiology
Amarouch, Mohamed-Yassine MY; Abriel, Hugues H
Publication Date: 2015

Variant appearance in text: SCN4A: I588V
PubMed Link: 25741286
Variant Present in the following documents:
  • Main text
  • fphys-06-00045.pdf
View BVdb publication page



Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

Brain : A Journal Of Neurology
Corrochano, Silvia S; Männikkö, Roope R; Joyce, Peter I PI; McGoldrick, Philip P; Wettstein, Jessica J; Lassi, Glenda G; Raja Rayan, Dipa L DL; Blanco, Gonzalo G; Quinn, Colin C; Liavas, Andrianos A; Lionikas, Arimantas A; Amior, Neta N; Dick, James J; Healy, Estelle G EG; Stewart, Michelle M; Carter, Sarah S; Hutchinson, Marie M; Bentley, Liz L; Fratta, Pietro P; Cortese, Andrea A; Cox, Roger R; Brown, Steve D M SD; Tucci, Valter V; Wackerhage, Henning H; Amato, Anthony A AA; Greensmith, Linda L; Koltzenburg, Martin M; Hanna, Michael G MG; Acevedo-Arozena, Abraham A
Publication Date: 2014-12

Variant appearance in text: SCN4A: 1762A>G
PubMed Link: 25348630
Variant Present in the following documents:
  • Main text
  • awu292.pdf
View BVdb publication page