KCNE1 (P15382) variants and mutations

KCNE1 (also known as P15382) is a human protein-coding gene encoding a potassium voltage-gated channel subfamily E member 1 protein. An accessory subunit of the KCNQ1 potassium channel that helps regulate cardiac repolarization and inner-ear function. Biallelic pathogenic variants cause Jervell and Lange-Nielsen syndrome type 2, while some variants increase susceptibility to QT prolongation. This analysis covers 459 KCNE1 variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, and Jervell and Lange-Nielsen syndrome. Example KCNE1 variants include M1L, I2F, and I2N.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Diseases linked to KCNE1

Notable KCNE1 variants

Examples include M1L, I2F, I2N, L3M, L3P, L3L, S4A, N5*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.