Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.

Zhao, Jing Ting

Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. [electronic resource] - Journal of cardiovascular electrophysiology Aug 2009 - 923-30 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

1540-8167

10.1111/j.1540-8167.2009.01468.x doi


Adolescent
Adult
Amino Acid Sequence
Animals
CHO Cells
Cell Line
Child
Cricetinae
Cricetulus
ERG1 Potassium Channel
Ether-A-Go-Go Potassium Channels--antagonists & inhibitors
Female
Gene Silencing
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation--genetics
Pedigree
Phenotype
Protein Structure, Tertiary--genetics
Protein Transport--genetics
Severity of Illness Index
Young Adult