LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype

LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype

The <em>SNTA1</em>-encoded &alpha;1-syntrophin (SNTA1) missense mutation, p.A257G, causes long QT syndrome (LQTS) by pathogenic accentuation of Nav1.5&rsquo;s sodium current (INa). Subsequently, we found p.A257G in combination with the SNTA1 polymorphism, p.P74L in 4 victims of s...

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Bibliographic Details
Main Authors: Michael J. Ackerman, David J. Tester, Carmen R. Valdivia, Bi-Hua Tan, Jonathan C. Makielski, Matteo Vatta, Argelia Medeiros-Domingo, Jianding Cheng, David W. Van Norstrand
Format: Article
Language:English
Published: MDPI AG 2011-08-01
Series:Cardiogenetics
Subjects:
long-QT syndrome, genetics, ion channels, SCN5A, syntrophin.
Online Access:http://www.pagepressjournals.org/index.php/cardiogen/article/view/136

Internet

http://www.pagepressjournals.org/index.php/cardiogen/article/view/136

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