No paralogue variants have been mapped to residue 78 for KCNH2.
| KCNH2 | FCELCGYSRAEVMQRPCTCDFLHGPRTQRR>A<AAQ-IAQ----------------------- | 84 |
| KCNH1 | FCKLSGYHRAEVMQKSSTCSFMYGELTDKD>T<IEK-VRQ----------------------- | 85 |
| KCNH3 | FCDLTGFSRAEVMQRGCACSFLYGPDTSEL>V<RQQ-IRK----------------------- | 85 |
| KCNH4 | FCELTGYGRTEVMQKTCSCRFLYGPETSEP>A<LQR-LHK----------------------- | 85 |
| KCNH5 | FCKLSGYHRADVMQKSSTCSFMYGELTDKK>T<IEK-VRQ----------------------- | 83 |
| KCNH6 | FCELFGYSRVEVMQQPCTCDFLTGPNTPSS>A<VSR-LAQ----------------------- | 84 |
| KCNH7 | FCEMTGFSRPDVMQKPCTCDFLHGPETKRH>D<IAQ-IAQ----------------------- | 84 |
| KCNH8 | FCELAGFARTEVMQKSCSCKFLFGVETNEQ>L<MLQ-IEK----------------------- | 85 |
| CNGA1 | ------------------------------>-<--G-ACS----------------------- | 40 |
| CNGA2 | HA------PPA-----------IKANGK-D>D<HRT-SSR----------------------- | 37 |
| CNGA3 | ----------------------RDLNRA-E>N<--G-LSR----------------------- | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ---------------DPAQILGHGSTGDTG>C<TDE-PNE----------------------- | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | EEEG-AGGRQDPSRRSIRLRPLPSPSPSAA>A<GGTESRSSALGAADSEGPARGAGKSSTNGD | 92 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A78P | c.232G>C | Inherited Arrhythmia | LQTS | rs199472848 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. J Biol Chem. 1999 274(15):10113-8. 10187793 | ||
| 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 | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-รก-go-go-related gene potassium channels. J Biol Chem. 2011 286(25):22160-9. 21536673 | |||
| Inherited Arrhythmia | LQTS | Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel. PLoS One. 2012 7(3):e32654. 22396785 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| p.A78V | c.233C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genetic characteristics of children and adolescents with long-QT syndrome diagnosed by school-based electrocardiographic screening programs. Circ Arrhythm Electrophysiol. 2014 7(1):107-12. doi: 10.1161/CIRCEP.113.000426. 24363352 | ||