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.
- Paralogue Annotations
- Known KCNE2 Variants
- All Variants and Paralogue Annotations
Amino acid residues of KCNE2 with known missense variants or 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.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 4-L | N-terminus | None | 4 | KCNE3 - Long QT syndrome |
| 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) | ||
| 11-L | N-terminus | None | 3 | KCNE1 - Long QT syndrome |
| 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) | ||
| 18-I | N-terminus | None | 4 | KCNE1 - Long QT syndrome |
| 20-I | N-terminus | Arrhythmia (1) | ||
| 23-M | N-terminus | Arrhythmia (2) | ||
| 25-N | N-terminus | None | 3 | KCNE1 - Long QT syndrome |
| 27-R | N-terminus | Arrhythmia (6) | ||
| 30-T | N-terminus | Prob. Benign (0) | ||
| 31-T | N-terminus | Prob. Benign (0) | ||
| 32-A | N-terminus | None | 3 | KCNE1 - Atrial fibrillation, early-onset |
| 36-A | N-terminus | None | 4 | KCNE1 - Long QT syndrome |
| 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 ? |
| 41-V | N-terminus | None | 3 | KCNE3 - Atrial fibrillation, familial |
| 44-E | N-terminus | None | ||
| 47-Y | N-terminus | Prob. Benign (0) | ||
| 48-Y | N-terminus | Prob. Benign (0) | ||
| 53-L | Transmembrane region | None | 9 | KCNE1 - Long QT syndrome, Tinnitus ? |
| 54-M | Transmembrane region | Conflict (14) | ||
| 55-V | Transmembrane region | None | 9 | KCNE1 - Long QT syndrome |
| 56-M | Transmembrane region | Prob. Benign (0) | ||
| 57-I | Transmembrane region | Conflict (13) | 9 | KCNE3 - Arrhythmia |
| 58-G | Transmembrane region | None | 9 | 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 | None | 9 | KCNE1 - Long QT syndrome |
| 64-I | Transmembrane region | None | 9 | 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 |
| 69-V | Transmembrane region | Prob. Benign (0) | ||
| 70-S | C-terminus | Prob. Benign (0) | ||
| 72-V | C-terminus | None | 9 | KCNE4 - Periodic paralysis ? |
| 73-K | C-terminus | None | 9 | KCNE1 - Long QT syndrome |
| 75-K | C-terminus | None | 9 | KCNE3 - Periodic paralysis |
| 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) | ||
| 80-S | C-terminus | None | 9 | KCNE1 - Long QT syndrome |
| 82-D | C-terminus | Prob. Benign (0) | 9 | KCNE1 - Jervell and Lange-Nielsen syndrome |
| 86-Q | C-terminus | None | 9 | KCNE1 - Long QT syndrome |
| 87-Y | C-terminus | None | 9 | KCNE1 - Long QT syndrome |
| 88-I | C-terminus | Prob. Benign (0) | ||
| 89-V | C-terminus | None | 7 | KCNE1 - Long QT syndrome |
| 90-E | C-terminus | Other Cardiac (1) | ||
| 91-D | C-terminus | None | 5 | KCNE1 - Long QT syndrome ? |
| 92-W | C-terminus | None | 8 | KCNE1 - Long QT syndrome |
| 94-E | C-terminus | Arrhythmia (1) | ||
| 96-Y | C-terminus | None | 9 | KCNE1 - Long QT syndrome |
| 98-S | C-terminus | None | 7 | KCNE1 - Long QT syndrome |
| 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) | ||
| 124-X | Other Cardiac (1) |