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

The SNTA1-encoded α1-syntrophin (SNTA1) missense mutation, p.A257G, causes long QT syndrome (LQTS) by pathogenic accentuation of Nav1.5’s sodium current (I(Na)). Subsequently, we found p.A257G in combination with the SNTA1 polymorphism, p.P74L in 4 victims of sudden infant death syndrome (SIDS) as w...

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Main Authors: Cheng, Jianding, Norstrand, David W. Van, Medeiros-Domingo, Argelia, Tester, David J., Valdivia, Carmen R., Tan, Bi-Hua, Vatta, Matteo, Makielski, Jonathan C., Ackerman, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3852898/
https://ncbi.nlm.nih.gov/pubmed/24319568
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