No paralogue variants have been mapped to residue 604 for KCNH2.
| KCNH2 | ---------G------------------LG>G<PSIKDKYVTALYFTFSSLTSVGFGNVSPNT | 634 |
| KCNH1 | -------GSG-----------S--GK-WEG>G<PSKNSVYISSLYFTMTSLTSVGFGNIAPST | 473 |
| KCNH3 | RRPAGGNSSGQSDNCSSSSEANGTGLELLG>G<PSLRSAYITSLYFALSSLTSVGFGNVSANT | 475 |
| KCNH4 | ---------------------------SVG>G<PSRRSAYIAALYFTLSSLTSVGFGNVCANT | 449 |
| KCNH5 | -------T-S-----------A--GI-WEG>G<PSKDSLYVSSLYFTMTSLTTIGFGNIAPTT | 442 |
| KCNH6 | ---------D-----------P------AS>G<PSVQDKYVTALYFTFSSLTSVGFGNVSPNT | 486 |
| KCNH7 | ---------D-----------S------SS>G<PSIKDKYVTALYFTFSSLTSVGFGNVSPNT | 637 |
| KCNH8 | ---------------------------TLG>G<PSIRSAYIAALYFTLSSLTSVGFGNVSANT | 444 |
| CNGA1 | -----------------------------E>F<GRLARKYVYSLYWSTLTLTTIG-ETPPPVR | 371 |
| CNGA2 | -----------------------------E>Y<GYLAREYIYCLYWSTLTLTTIG-ETPPPVK | 346 |
| CNGA3 | -----------------------------E>H<GRLSRKYIYSLYWSTLTLTTIG-ETPPPVK | 374 |
| CNGA4 | -----------------------------G>F<ERLRRQYLYSFYFSTLILTTVG-DTPPPAR | 240 |
| CNGB1 | ------------------------------>-<-GVGNSYIRCYYFAVKTLITIG-GLPDPKT | 854 |
| CNGB3 | ------------------------------>-<-GEGNEYLRCYYWAVRTLITIG-GLPEPQT | 416 |
| HCN1 | -----------------------------V>N<DSWGKQYSYALFKAMSHMLCIGYGAQAPVS | 368 |
| HCN2 | -----------------------------V>N<HSWSELYSFALFKAMSHMLCIGYGRQAPES | 437 |
| HCN3 | -----------------------------V>N<HSWGRQYSHALFKAMSHMLCIGYGQQAPVG | 321 |
| HCN4 | -----------------------------V>N<NSWGKQYSYALFKAMSHMLCIGYGRQAPVG | 488 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G604D | c.1811G>A | Inherited Arrhythmia | LQTS | rs199472937 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 | ||
| p.G604S | c.1810G>A | Inherited Arrhythmia | LQTS | rs199473522 | 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 | 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 | 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 | 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 | A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death. Eur J Pediatr. 2007 166(9):927-33. 17171344 | |||
| Inherited Arrhythmia | LQTS | The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells. Pflugers Arch. 2008 456(5):917-28. 18386051 | |||
| 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 | |||
| 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 | Long QT syndrome with nocturnal cardiac events caused by a KCNH2 missense mutation (G604S). Intern Med. 2012 51(14):1857-60. 22821100 | |||
| p.Gly604Val | c.1811G>T | Unknown | SIFT: Polyphen: | ||