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 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), and any disease-causing paralogue missense variants that have been mapped to the residue, including 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-terminus Prob. Benign (0)
2-I N-terminus Prob. Benign (0)
3-L N-terminus Prob. Benign (0)
5-N N-terminus Prob. Benign (0)
6-T N-terminus None
7-T N-terminus Arrhythmia (1)
8-A N-terminus Arrhythmia (4)2 KCNE2 - Cardiac arrhythmia
10-T N-terminus Arrhythmia (2)
11-P N-terminus Prob. Benign (0)
16-L N-terminus Arrhythmia (1)
19-E N-terminus Prob. Benign (0)
20-T N-terminus Arrhythmia (1)
23-Q N-terminus Prob. Benign (0)
24-G N-terminus Prob. Benign (0)
25-G N-terminus Arrhythmia (1)
27-M N-terminus Prob. Benign (0)
28-S N-terminus Arrhythmia (4)
31-A N-terminus Prob. Benign (0)
32-R N-terminus Arrhythmia (5)
33-R N-terminus Prob. Benign (0)
34-S N-terminus Prob. Benign (0)
35-P N-terminus Prob. Benign (0)
36-R N-terminus Arrhythmia (2)
37-S N-terminus Prob. Benign (0)
38-S N-terminus Conflict (11)3 KCNE3 - Atrial fibrillation, familial
39-D N-terminus Prob. Benign (1)
40-G N-terminus Prob. Benign (0)
41-K N-terminus Prob. Benign (0)
43-E N-terminus Prob. Benign (1)
44-A Transmembrane region Prob. Benign (0)
47-V Transmembrane region Conflict (3)
48-L Transmembrane region Prob. Benign (0)9 KCNE2 - Cardiac arrhythmia
49-M Transmembrane region Arrhythmia (1)
52-G Transmembrane region Arrhythmia (3)
53-F Transmembrane region Arrhythmia (1)
54-F Transmembrane region Other Cardiac (1)9 KCNE2 - Long QT syndrome
55-G Transmembrane region Arrhythmia (1)
58-T Transmembrane region Arrhythmia (2)
59-L Transmembrane region Arrhythmia (1)9 KCNE2 - Long QT syndrome
60-G Transmembrane region Arrhythmia (1)
61-I Transmembrane region Prob. Benign (0)
66-I Transmembrane region None9 KCNE4 - Periodic paralysis ?
67-R C-terminus Arrhythmia (3)
68-S C-terminus Prob. Benign (1)
69-K C-terminus Prob. Benign (1)9 KCNE3 - Periodic paralysis
70-K C-terminus Arrhythmia (2)
74-S C-terminus Arrhythmia (4)
76-D C-terminus Arrhythmia (14)
79-N C-terminus Prob. Benign (1)
80-V C-terminus Arrhythmia (1)
81-Y C-terminus Arrhythmia (3)
82-I C-terminus Prob. Benign (0)
83-E C-terminus Arrhythmia (2)
84-S C-terminus Prob. Benign (0)
85-D C-terminus Conflict (30)
87-W C-terminus Arrhythmia (3)
88-Q C-terminus Prob. Benign (0)
91-D C-terminus Arrhythmia (1)
93-A C-terminus Arrhythmia (1)
95-V C-terminus Prob. Benign (0)
96-Q C-terminus Prob. Benign (0)
98-R C-terminus Arrhythmia (4)
105-S C-terminus Prob. Benign (1)
109-V C-terminus Arrhythmia (6)
114-A C-terminus Prob. Benign (0)
125-T C-terminus Arrhythmia (2)