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 mapped disease-causing missense variants from paralogues 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), 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
4-L N-terminus None4 KCNE3 - Long QT syndrome
8-T N-terminus Conflict (8)3 KCNE1 - Jervell and Lange-Nielsen syndrome
9-Q N-terminus Conflict (5)2 KCNE1 - Long QT syndrome
11-L N-terminus None3 KCNE1 - Long QT syndrome
14-V N-terminus Arrhythmia (5)3 KCNE3 - Atrial fibrillation
18-I N-terminus None4 KCNE1 - Long QT syndrome
25-N N-terminus None3 KCNE1 - Long QT syndrome
32-A N-terminus None3 KCNE1 - Atrial fibrillation, early-onset
36-A N-terminus None4 KCNE1 - Long QT syndrome
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 ?
41-V N-terminus None3 KCNE3 - Atrial fibrillation, familial
53-L Transmembrane region None9 KCNE1 - Long QT syndrome, Tinnitus ?
55-V Transmembrane region None9 KCNE1 - Long QT syndrome
57-I Transmembrane region Conflict (13)9 KCNE3 - Arrhythmia
58-G Transmembrane region None9 KCNE1 - Long QT syndrome
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
61-S Transmembrane region None9 KCNE1 - Long QT syndrome
64-I Transmembrane region None9 KCNE1 - Long QT 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
72-V C-terminus None9 KCNE4 - Periodic paralysis ?
73-K C-terminus None9 KCNE1 - Long QT syndrome
75-K C-terminus None9 KCNE3 - Periodic paralysis
76-R C-terminus Prob. Benign (0)9 KCNE1 - Long QT syndrome
80-S C-terminus None9 KCNE1 - Long QT syndrome
82-D C-terminus Prob. Benign (0)9 KCNE1 - Jervell and Lange-Nielsen syndrome
86-Q C-terminus None9 KCNE1 - Long QT syndrome
87-Y C-terminus None9 KCNE1 - Long QT syndrome
89-V C-terminus None7 KCNE1 - Long QT syndrome
91-D C-terminus None5 KCNE1 - Long QT syndrome ?
92-W C-terminus None8 KCNE1 - Long QT syndrome
96-Y C-terminus None9 KCNE1 - Long QT syndrome
98-S C-terminus None7 KCNE1 - Long QT syndrome
103-L C-terminus Prob. Benign (0)6 KCNE1 - Long QT syndrome
106-S C-terminus Prob. Benign (0)6 KCNE3 - Brugada syndrome
119-F C-terminus Prob. Benign (1)8 KCNE1 - Long QT syndrome
121-M C-terminus Arrhythmia (1)8 KCNE1 - Long QT syndrome