KCNE2 Paralogue Annotation

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

The paralogue variant mappings to KCNE2 are based on the Locus Reference Genomic entry for KCNE2 - LRG_291. This is based on the transcript ENST00000290310 and protein ENSP00000290310 (123 amino acids) for the Ensembl gene ENSG00000159197.



Amino acid residues of KCNE2 with known missense variants are shown below, along with details about the KCNE2 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 KCNE2 variants and the mapped paralogue variants.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
6-N N-terminus Prob. Benign (0)
8-T N-terminus Conflict (8)3 KCNE1 - Jervell and Lange-Nielsen syndrome
9-Q N-terminus Conflict (5)2 KCNE1 - Long QT syndrome
10-T N-terminus Arrhythmia (3)
12-E N-terminus Prob. Benign (0)
13-D N-terminus Prob. Benign (0)
14-V N-terminus Arrhythmia (5)3 KCNE3 - Atrial fibrillation
15-F N-terminus Prob. Benign (0)
16-R N-terminus Prob. Benign (0)
20-I N-terminus Arrhythmia (1)
23-M N-terminus Arrhythmia (2)
27-R N-terminus Arrhythmia (6)
30-T N-terminus Prob. Benign (0)
31-T N-terminus Prob. Benign (0)
37-L N-terminus Prob. Benign (0)
38-Q N-terminus Prob. Benign (0)
39-A N-terminus Prob. Benign (0)4 KCNE1 - Long QT syndrome
40-K N-terminus Prob. Benign (0)3 KCNE1 - Long QT syndrome, Long QT syndrome ?
44-E N-terminus None
47-Y N-terminus Prob. Benign (0)
48-Y N-terminus Prob. Benign (0)
54-M Transmembrane region Conflict (14)
56-M Transmembrane region Prob. Benign (0)
57-I Transmembrane region Conflict (13)9 KCNE3 - Arrhythmia
59-M Transmembrane region Prob. Benign (0)9 KCNE1 - Long QT syndrome
60-F Transmembrane region Arrhythmia (1)9 KCNE1 - Sudden unexplained nocturnal death syndrome
65-V Transmembrane region Arrhythmia (2)9 KCNE1 - Long QT syndrome
66-A Transmembrane region Prob. Benign (1)9 KCNE1 - Atrial fibrillation, early-onset
69-V Transmembrane region Prob. Benign (0)
70-S C-terminus Prob. Benign (0)
76-R C-terminus Prob. Benign (0)9 KCNE1 - Long QT syndrome
77-R C-terminus Arrhythmia (6)
79-H C-terminus Prob. Benign (0)
82-D C-terminus Prob. Benign (0)9 KCNE1 - Jervell and Lange-Nielsen syndrome
88-I C-terminus Prob. Benign (0)
90-E C-terminus Other Cardiac (1)
94-E C-terminus Arrhythmia (1)
102-N C-terminus Prob. Benign (0)
103-L C-terminus Prob. Benign (0)6 KCNE1 - Long QT syndrome
104-E C-terminus Prob. Benign (0)
106-S C-terminus Prob. Benign (0)6 KCNE3 - Brugada syndrome
111-H C-terminus Prob. Benign (0)
116-A C-terminus Arrhythmia (2)
117-A C-terminus Prob. Benign (0)
118-G C-terminus Prob. Benign (0)
119-F C-terminus Prob. Benign (1)8 KCNE1 - Long QT syndrome
121-M C-terminus Arrhythmia (1)8 KCNE1 - Long QT syndrome
123-P C-terminus Prob. Benign (0)