KCNE1 Paralogue Annotation

This page details the annotation of KCNE1 with disease causing variants in the following paralogues: KCNE3, KCNE2, KCNE4. Click here to see the multiple sequence alignment of KCNE1 with all paralogues.

The paralogue variant mappings to KCNE1 are based on the Locus Reference Genomic entry for KCNE1 - LRG_290. This is based on the transcript ENST00000399289 and protein ENSP00000382228 (129 amino acids) for the Ensembl gene ENSG00000180509.

Amino acid residues of KCNE1 with mapped disease-causing missense variants from paralogues are shown below, along with details about the KCNE1 protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known KCNE1 variants and the mapped paralogue variants.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
4-S N-terminus None4 KCNE3 - Long QT syndrome
8-A N-terminus Arrhythmia (4)2 KCNE2 - Cardiac arrhythmia
9-V N-terminus None2 KCNE2 - Long QT syndrome
12-F N-terminus None3 KCNE2 - Long QT syndrome
KCNE3 - Atrial fibrillation
18-Q N-terminus None2 KCNE2 - Long QT syndrome
38-S N-terminus Conflict (11)3 KCNE3 - Atrial fibrillation, familial
48-L Transmembrane region Prob. Benign (0)9 KCNE2 - Cardiac arrhythmia
51-L Transmembrane region None9 KCNE2 - Cardiac arrhythmia
KCNE3 - Arrhythmia
54-F Transmembrane region Other Cardiac (1)9 KCNE2 - Long QT syndrome
59-L Transmembrane region Arrhythmia (1)9 KCNE2 - Long QT syndrome
66-I Transmembrane region None9 KCNE4 - Periodic paralysis ?
69-K C-terminus Prob. Benign (1)9 KCNE3 - Periodic paralysis
71-L C-terminus None9 KCNE2 - Long QT syndrome
89-E C-terminus None9 KCNE2 - Long QT syndrome
112-H C-terminus None6 KCNE3 - Brugada syndrome
122-L C-terminus None9 KCNE2 - Cardiac arrhythmia
127-P C-terminus Arrhythmia (4)7 KCNE2 - Long QT syndrome