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Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K(+) channels: Validation with hERG
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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632996/ https://www.ncbi.nlm.nih.gov/pubmed/36339618 http://dx.doi.org/10.3389/fphar.2022.1010119 |