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

Pub. Date : 2011 Oct 25

PMID : 24319568






3 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The SNTA1-encoded alpha1-syntrophin (SNTA1) missense mutation, p.A257G, causes long QT syndrome (LQTS) by pathogenic accentuation of Nav1.5"s sodium current (INa). Sodium syntrophin alpha 1 Homo sapiens
2 The SNTA1-encoded alpha1-syntrophin (SNTA1) missense mutation, p.A257G, causes long QT syndrome (LQTS) by pathogenic accentuation of Nav1.5"s sodium current (INa). Sodium syntrophin alpha 1 Homo sapiens
3 The SNTA1-encoded alpha1-syntrophin (SNTA1) missense mutation, p.A257G, causes long QT syndrome (LQTS) by pathogenic accentuation of Nav1.5"s sodium current (INa). Sodium syntrophin alpha 1 Homo sapiens