No paralogue variants have been mapped to residue 588 for KCNH2.
| KCNH2 | HWLACIWYAIGNMEQPHMDSR----IGWLH>N<LGDQIGKPYNSS----------G------- | 601 |
| KCNH1 | HWMACIWYSIGDYEIFDEDTKTIRNNSWLY>Q<LAMDIGTPYQFN--------GSG------- | 436 |
| KCNH3 | HWVACVWFYIGQREIESSESELPE-IGWLQ>E<LARRLETPYYLVGRRPAGGNSSGQSDNCSS | 431 |
| KCNH4 | HWMACIWYVIGRREMEANDPLLWD-IGWLH>E<LGKRLEVPYVNG------------------ | 415 |
| KCNH5 | HWLACIWYSIGDYEVIDEVTNTIQIDSWLY>Q<LALSIGTPYRYN--------T-S------- | 405 |
| KCNH6 | HWLACIWYAIGNVERPYLEHK----IGWLD>S<LGVQLGKRYNGS----------D------- | 452 |
| KCNH7 | HWLACIWYAIGNVERPYLTDK----IGWLD>S<LGQQIGKRYNDS----------D------- | 603 |
| KCNH8 | HWMACIWYVIGKMEREDNSLLKWE-VGWLH>E<LGKRLESPYYGNN----------------- | 410 |
| CNGA1 | HWNACVFYSISKAIGFGND-------TWVY>P<D---INDP---------------------- | 340 |
| CNGA2 | HWNACIYYAISKSIGFGVD-------TWVY>P<N---ITDP---------------------- | 315 |
| CNGA3 | HWNACIYFAISKFIGFGTD-------SWVY>P<N---ISIP---------------------- | 343 |
| CNGA4 | HWNSCLYFALSRYLGFGRD-------AWVY>P<D---PAQP---------------------- | 209 |
| CNGB1 | HLNSCLYYWASAYQGLGST-------HWVY>D<------------------------------ | 826 |
| CNGB3 | HINACVYYWASNYEGIGTT-------RWVY>D<------------------------------ | 388 |
| HCN1 | HWDGCLQFLVPLLQDFPPD-------CWVS>-<----LNEM---------------------- | 336 |
| HCN2 | HWDGCLQFLVPMLQDFPRN-------CWVS>-<----INGM---------------------- | 405 |
| HCN3 | HWDGCLQFLVPMLQDFPPD-------CWVS>-<----INHM---------------------- | 289 |
| HCN4 | HWDGCLQFLVPMLQDFPDD-------CWVS>-<----INNM---------------------- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N588D | c.1762A>G | Inherited Arrhythmia | LQTS | rs199473431 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 51(1):86-97. 9693036 | ||
| 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 | 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 | 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.N588K | c.1764C>G | Inherited Arrhythmia | SQTS | rs104894021 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | SQTS | Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation. 2004 109(1):30-5. 14676148 | ||
| Inherited Arrhythmia | SQTS | Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. J Cardiovasc Electrophysiol. 2005 16(4):394-6. 15828882 | |||
| Inherited Arrhythmia | SQTS | Biophysical characterization of the short QT mutation hERG-N588K reveals a mixed gain-and loss-of-function. Cell Physiol Biochem. 2008 22(5-6):611-24. 19088443 | |||
| Inherited Arrhythmia | SQTS | Comparative effects of the short QT N588K mutation at 37 degrees C on hERG K+ channel current during ventricular, Purkinje fibre and atrial action potentials: an action potential clamp study. J Physiol Pharmacol. 2009 60(1):23-41. 19439805 | |||
| Inherited Arrhythmia | SQTS | hERG1a/1b heteromeric currents exhibit amplified attenuation of inactivation in variant 1 short QT syndrome. Biochem Biophys Res Commun. 2009 386(1):111-7. 19501051 | |||
| Inherited Arrhythmia | SQTS | Increased vulnerability of human ventricle to re-entrant excitation in hERG-linked variant 1 short QT syndrome. PLoS Comput Biol. 2011 7(12):e1002313. 22194679 | |||
| Inherited Arrhythmia | SQTS | In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome. J Mol Cell Cardiol. 2014 72:126-37. doi: 10.1016/j.yjmcc.2014.02.018. 24631769 | |||
| Inherited Arrhythmia | SQTS | Arrhythmic potency of human ether-a-go-go-related gene mutations L532P and N588K in a computational model of human atrial myocytes. Europace. 2014 16(3):435-43. doi: 10.1093/europace/eut375. 24569898 | |||
| Inherited Arrhythmia | SQTS | Short QT syndrome in a boy diagnosed on screening for heart disease. Pediatr Int. 2014 56(5):774-6. doi: 10.1111/ped.12308. 25335996 | |||
| Inherited Arrhythmia | SQTS | In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome. J Mol Cell Cardiol. 2015 87:271-82. 26859003 | |||
| p.N588K | c.1764C>A | Other Cardiac Phenotype | rs104894021 | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Other Cardiac Phenotype | Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation. 2004 109(1):30-5. 14676148 | |||