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 known missense variants or 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
1-M N-terminusProb. Benign (0)
2-I N-terminusProb. Benign (0)
3-L N-terminusProb. Benign (0)
4-S N-terminusNone4 KCNE3 - Long QT syndrome
5-N N-terminusProb. Benign (0)
6-T N-terminusNone
7-T N-terminusArrhythmia (1)
8-A N-terminusArrhythmia (4)2 KCNE2 - Cardiac arrhythmia
9-V N-terminusNone2 KCNE2 - Long QT syndrome
10-T N-terminusArrhythmia (2)
11-P N-terminusProb. Benign (0)
12-F N-terminusNone3 KCNE2 - Long QT syndrome
KCNE3 - Atrial fibrillation
16-L N-terminusArrhythmia (1)
18-Q N-terminusNone2 KCNE2 - Long QT syndrome
19-E N-terminusProb. Benign (0)
20-T N-terminusArrhythmia (1)
23-Q N-terminusProb. Benign (0)
24-G N-terminusProb. Benign (0)
25-G N-terminusArrhythmia (1)
27-M N-terminusProb. Benign (0)
28-S N-terminusArrhythmia (4)
31-A N-terminusProb. Benign (0)
32-R N-terminusArrhythmia (5)
33-R N-terminusProb. Benign (0)
34-S N-terminusProb. Benign (0)
35-P N-terminusProb. Benign (0)
36-R N-terminusArrhythmia (2)
37-S N-terminusProb. Benign (0)
38-S N-terminusConflict (11)3 KCNE3 - Atrial fibrillation, familial
39-D N-terminusProb. Benign (1)
40-G N-terminusProb. Benign (0)
41-K N-terminusProb. Benign (0)
43-E N-terminusProb. Benign (1)
44-A Transmembrane regionProb. Benign (0)
47-V Transmembrane regionConflict (3)
48-L Transmembrane regionProb. Benign (0)9 KCNE2 - Cardiac arrhythmia
49-M Transmembrane regionArrhythmia (1)
51-L Transmembrane regionNone9 KCNE2 - Cardiac arrhythmia
KCNE3 - Arrhythmia
52-G Transmembrane regionArrhythmia (3)
53-F Transmembrane regionArrhythmia (1)
54-F Transmembrane regionOther Cardiac (1)9 KCNE2 - Long QT syndrome
55-G Transmembrane regionArrhythmia (1)
58-T Transmembrane regionArrhythmia (2)
59-L Transmembrane regionArrhythmia (1)9 KCNE2 - Long QT syndrome
60-G Transmembrane regionArrhythmia (1)
61-I Transmembrane regionProb. Benign (0)
66-I Transmembrane regionNone9 KCNE4 - Periodic paralysis ?
67-R C-terminusArrhythmia (3)
68-S C-terminusProb. Benign (1)
69-K C-terminusProb. Benign (1)9 KCNE3 - Periodic paralysis
70-K C-terminusArrhythmia (2)
71-L C-terminusNone9 KCNE2 - Long QT syndrome
74-S C-terminusArrhythmia (4)
76-D C-terminusArrhythmia (14)
79-N C-terminusProb. Benign (1)
80-V C-terminusArrhythmia (1)
81-Y C-terminusArrhythmia (3)
82-I C-terminusProb. Benign (0)
83-E C-terminusArrhythmia (2)
84-S C-terminusProb. Benign (0)
85-D C-terminusConflict (30)
87-W C-terminusArrhythmia (3)
88-Q C-terminusProb. Benign (0)
89-E C-terminusNone9 KCNE2 - Long QT syndrome
91-D C-terminusArrhythmia (1)
93-A C-terminusArrhythmia (1)
95-V C-terminusProb. Benign (0)
96-Q C-terminusProb. Benign (0)
98-R C-terminusArrhythmia (4)
105-S C-terminusProb. Benign (1)
109-V C-terminusArrhythmia (6)
112-H C-terminusNone6 KCNE3 - Brugada syndrome
114-A C-terminusProb. Benign (0)
122-L C-terminusNone9 KCNE2 - Cardiac arrhythmia
125-T C-terminusArrhythmia (2)
127-P C-terminusArrhythmia (4)7 KCNE2 - Long QT syndrome