Paralogue Annotation for KCNE1 residue 127
Residue details
Gene: KCNE1Reference Sequences: LRG:
LRG_290, Ensembl variant:
ENST00000399289 /
ENSP00000382228Amino Acid Position: 127
Reference Amino Acid: P - Proline
Protein Domain: C-terminus
Paralogue Variants mapped to KCNE1 residue 127
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | KCNE2 | M121K | Long QT syndrome | Medium | 7 |
23631430 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to
check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing.
It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNE1.
| KCNE1 | ------EN-----HLAIEQP--NTHLPETK>P<S----------------P | 129 |
| KCNE2 | ------EE-----SKATIHE--NIGAAGFK>M<S----------------P | 123 |
| KCNE3 | -------------RVSM------------->-<-----------------I | 103 |
| KCNE4 | GDSVSSESSSPDVHLTIQEEGADDELEETS>E<TPLNESSEGSSENIHQNS | 170 |
| cons | > < | |
Known Variants in KCNE1
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.P127T | c.379C>A |
Inherited Arrhythmia | LQTS | rs199473647 | SIFT: deleterious
Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85.
10973849 |
| Inherited Arrhythmia | LQTS |
Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41.
15051636 |
| Inherited Arrhythmia | LQTS |
Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. Biochem J. 2014 462(1):133-42. doi: 10.1042/BJ20140425.
24912595 |
| Inherited Arrhythmia | LQTS |
Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIPâ‚‚. J Cell Sci. 2014 127(Pt 18):3943-55. doi: 10.1242/jcs.147033.
25037568 |