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.
- Paralogue Annotations
- Known KCNE1 Variants
- All Variants and Paralogue Annotations
Amino acid residues of KCNE1 with 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.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 4-S | N-terminus | None | 4 | KCNE3 - Long QT syndrome |
| 8-A | N-terminus | Arrhythmia (4) | 2 | KCNE2 - Cardiac arrhythmia |
| 9-V | N-terminus | None | 2 | KCNE2 - Long QT syndrome |
| 12-F | N-terminus | None | 3 | KCNE2 - Long QT syndrome KCNE3 - Atrial fibrillation |
| 18-Q | N-terminus | None | 2 | KCNE2 - Long QT syndrome |
| 38-S | N-terminus | Conflict (11) | 3 | KCNE3 - Atrial fibrillation, familial |
| 48-L | Transmembrane region | Prob. Benign (0) | 9 | KCNE2 - Cardiac arrhythmia |
| 51-L | Transmembrane region | None | 9 | KCNE2 - Cardiac arrhythmia KCNE3 - Arrhythmia |
| 54-F | Transmembrane region | Other Cardiac (1) | 9 | KCNE2 - Long QT syndrome |
| 59-L | Transmembrane region | Arrhythmia (1) | 9 | KCNE2 - Long QT syndrome |
| 66-I | Transmembrane region | None | 9 | KCNE4 - Periodic paralysis ? |
| 69-K | C-terminus | Prob. Benign (1) | 9 | KCNE3 - Periodic paralysis |
| 71-L | C-terminus | None | 9 | KCNE2 - Long QT syndrome |
| 89-E | C-terminus | None | 9 | KCNE2 - Long QT syndrome |
| 112-H | C-terminus | None | 6 | KCNE3 - Brugada syndrome |
| 122-L | C-terminus | None | 9 | KCNE2 - Cardiac arrhythmia |
| 127-P | C-terminus | Arrhythmia (4) | 7 | KCNE2 - Long QT syndrome |