Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG

• Egile Nagusiak: Yihong Zhang (Egilea), Amy L. Grimwood (Egilea), Jules C. Hancox (Egilea), Stephen C. Harmer (Egilea), Christopher E. Dempsey (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Loss of function (LOF) mutations of voltage sensitive K+ channel proteins hERG (Kv11.1) and KCNQ1 (Kv7.1) account for the majority of instances of congenital Long QT Syndrome (cLQTS) with the dominant molecular phenotype being a mistrafficking one resulting from protein misfolding. We explored the u...