No paralogue variants have been mapped to residue 614 for KCNH2.
| KCNH2 | ------------------LGGPSIKDKYVT>A<LYFTFSSLTSVGFGNVSPNTNSEKIFSICV | 644 |
| KCNH1 | -----------S--GK-WEGGPSKNSVYIS>S<LYFTMTSLTSVGFGNIAPSTDIEKIFAVAI | 483 |
| KCNH3 | QSDNCSSSSEANGTGLELLGGPSLRSAYIT>S<LYFALSSLTSVGFGNVSANTDTEKIFSICT | 485 |
| KCNH4 | -----------------SVGGPSRRSAYIA>A<LYFTLSSLTSVGFGNVCANTDAEKIFSICT | 459 |
| KCNH5 | -----------A--GI-WEGGPSKDSLYVS>S<LYFTMTSLTTIGFGNIAPTTDVEKMFSVAM | 452 |
| KCNH6 | -----------P------ASGPSVQDKYVT>A<LYFTFSSLTSVGFGNVSPNTNSEKVFSICV | 496 |
| KCNH7 | -----------S------SSGPSIKDKYVT>A<LYFTFSSLTSVGFGNVSPNTNSEKIFSICV | 647 |
| KCNH8 | -----------------TLGGPSIRSAYIA>A<LYFTLSSLTSVGFGNVSANTDAEKIFSICT | 454 |
| CNGA1 | -------------------EFGRLARKYVY>S<LYWSTLTLTTIG-ETPPPVRDSEYVFVVVD | 381 |
| CNGA2 | -------------------EYGYLAREYIY>C<LYWSTLTLTTIG-ETPPPVKDEEYLFVIFD | 356 |
| CNGA3 | -------------------EHGRLSRKYIY>S<LYWSTLTLTTIG-ETPPPVKDEEYLFVVVD | 384 |
| CNGA4 | -------------------GFERLRRQYLY>S<FYFSTLILTTVG-DTPPPAREEEYLFMVGD | 250 |
| CNGB1 | ----------------------GVGNSYIR>C<YYFAVKTLITIG-GLPDPKTLFEIVFQLLN | 864 |
| CNGB3 | ----------------------GEGNEYLR>C<YYWAVRTLITIG-GLPEPQTLFEIVFQLLN | 426 |
| HCN1 | -------------------VNDSWGKQYSY>A<LFKAMSHMLCIGYGAQAPVSMSDLWITMLS | 378 |
| HCN2 | -------------------VNHSWSELYSF>A<LFKAMSHMLCIGYGRQAPESMTDIWLTMLS | 447 |
| HCN3 | -------------------VNHSWGRQYSH>A<LFKAMSHMLCIGYGQQAPVGMPDVWLTMLS | 331 |
| HCN4 | -------------------VNNSWGKQYSY>A<LFKAMSHMLCIGYGRQAPVGMSDVWLTMLS | 498 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A614V | c.1841C>T | Inherited Arrhythmia | LQTS | rs199472944 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 95(3):565-7. 9024139 | ||
| Inherited Arrhythmia | LQTS | Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. Hum Genet. 1998 102(3):265-72. 9544837 | |||
| 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 | Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999 99(4):529-33. 9927399 | |||
| Inherited Arrhythmia | LQTS | Romano-Ward long QT syndrome: identification of a HERG mutation in a Taiwanese kindred. J Formos Med Assoc. 1999 98(9):649-52. 10560244 | |||
| 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 | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | |||
| Inherited Arrhythmia | LQTS | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | |||
| Inherited Arrhythmia | LQTS | Hydroxyzine, a first generation H(1)-receptor antagonist, inhibits human ether-a-go-go-related gene (HERG) current and causes syncope in a patient with the HERG mutation. J Pharmacol Sci. 2008 108(4):462-71. 19057127 | |||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| 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 | Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):511-23. 19843919 | |||
| 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 | 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 | |||
| Unknown | Identification of the gene causing long QT syndrome in an Israeli family. Isr Med Assoc J. 2008 10(11):809-11. 19070294 | ||||
| Unknown | Modelling the long QT syndrome with induced pluripotent stem cells. Nature. 2011 471(7337):225-9. doi: 10.1038/nature09747. 21240260 | ||||