No paralogue variants have been mapped to residue 613 for KCNH2.
| KCNH2 | G------------------LGGPSIKDKYV>T<ALYFTFSSLTSVGFGNVSPNTNSEKIFSIC | 643 |
| KCNH1 | G-----------S--GK-WEGGPSKNSVYI>S<SLYFTMTSLTSVGFGNIAPSTDIEKIFAVA | 482 |
| KCNH3 | GQSDNCSSSSEANGTGLELLGGPSLRSAYI>T<SLYFALSSLTSVGFGNVSANTDTEKIFSIC | 484 |
| KCNH4 | ------------------SVGGPSRRSAYI>A<ALYFTLSSLTSVGFGNVCANTDAEKIFSIC | 458 |
| KCNH5 | S-----------A--GI-WEGGPSKDSLYV>S<SLYFTMTSLTTIGFGNIAPTTDVEKMFSVA | 451 |
| KCNH6 | D-----------P------ASGPSVQDKYV>T<ALYFTFSSLTSVGFGNVSPNTNSEKVFSIC | 495 |
| KCNH7 | D-----------S------SSGPSIKDKYV>T<ALYFTFSSLTSVGFGNVSPNTNSEKIFSIC | 646 |
| KCNH8 | ------------------TLGGPSIRSAYI>A<ALYFTLSSLTSVGFGNVSANTDAEKIFSIC | 453 |
| CNGA1 | --------------------EFGRLARKYV>Y<SLYWSTLTLTTIG-ETPPPVRDSEYVFVVV | 380 |
| CNGA2 | --------------------EYGYLAREYI>Y<CLYWSTLTLTTIG-ETPPPVKDEEYLFVIF | 355 |
| CNGA3 | --------------------EHGRLSRKYI>Y<SLYWSTLTLTTIG-ETPPPVKDEEYLFVVV | 383 |
| CNGA4 | --------------------GFERLRRQYL>Y<SFYFSTLILTTVG-DTPPPAREEEYLFMVG | 249 |
| CNGB1 | -----------------------GVGNSYI>R<CYYFAVKTLITIG-GLPDPKTLFEIVFQLL | 863 |
| CNGB3 | -----------------------GEGNEYL>R<CYYWAVRTLITIG-GLPEPQTLFEIVFQLL | 425 |
| HCN1 | --------------------VNDSWGKQYS>Y<ALFKAMSHMLCIGYGAQAPVSMSDLWITML | 377 |
| HCN2 | --------------------VNHSWSELYS>F<ALFKAMSHMLCIGYGRQAPESMTDIWLTML | 446 |
| HCN3 | --------------------VNHSWGRQYS>H<ALFKAMSHMLCIGYGQQAPVGMPDVWLTML | 330 |
| HCN4 | --------------------VNNSWGKQYS>Y<ALFKAMSHMLCIGYGRQAPVGMSDVWLTML | 497 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T613M | c.1838C>T | Inherited Arrhythmia | LQTS | rs199473524 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat. 1999 13(4):301-10. 10220144 | ||
| Inherited Arrhythmia | LQTS | Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. Hum Mutat. 2000 15(6):580-1. 10862094 | |||
| 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 | Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472 | |||
| 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 | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | |||
| Other Cardiac Phenotype | Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol. 2004 43(5):826-30. 14998624 | ||||
| Inherited Arrhythmia | LQTS | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642 | |||
| 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 | Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4. 16379539 | |||
| Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | |||
| Inherited Arrhythmia | LQTS | Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. Genet Med. 2007 9(1):23-33. 17224687 | |||
| 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 | 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 | |||
| Other Cardiac Phenotype | Fetal ventricular tachycardia secondary to long QT syndrome treated with maternal intravenous magnesium: case report and review of the literature. Ultrasound Obstet Gynecol. 2009 34(4):475-80. 19731233 | ||||
| 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 | Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases. J Electrocardiol. 2012 45(3):237-43. 22402334 | |||
| 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 | |||
| Inherited Arrhythmia | LQTS | A patient with LQTS in whom verapamil administration and permanent pacemaker implantation were useful for preventing torsade de pointes. Pacing Clin Electrophysiol. 2004 27(1):123-4. 14720170 | |||
| p.T613K | c.1838C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome. Circ Arrhythm Electrophysiol. 2013 6(5):946-51. doi: 10.1161/CIRCEP.113.000618. 23995044 | ||
| p.T613A | c.1837A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | The Mutation P.T613a in the Pore Helix of the Kv 11.1 Potassium Channel is Associated with Long Qt Syndrome. Pacing Clin Electrophysiol. 2015 26173150 | ||
| p.Thr613Ser | c.1837A>T | Unknown | SIFT: Polyphen: | ||