No paralogue variants have been mapped to residue 601 for KCNH2.
| KCNH2 | --IGWLHNLGDQIGKPYNSS---------->G<------------------LGGPSIKDKYVT | 613 |
| KCNH1 | RNNSWLYQLAMDIGTPYQFN--------GS>G<-----------S--GK-WEGGPSKNSVYIS | 452 |
| KCNH3 | E-IGWLQELARRLETPYYLVGRRPAGGNSS>G<QSDNCSSSSEANGTGLELLGGPSLRSAYIT | 454 |
| KCNH4 | D-IGWLHELGKRLEVPYVNG---------->-<-----------------SVGGPSRRSAYIA | 428 |
| KCNH5 | QIDSWLYQLALSIGTPYRYN--------T->S<-----------A--GI-WEGGPSKDSLYVS | 421 |
| KCNH6 | --IGWLDSLGVQLGKRYNGS---------->D<-----------P------ASGPSVQDKYVT | 465 |
| KCNH7 | --IGWLDSLGQQIGKRYNDS---------->D<-----------S------SSGPSIKDKYVT | 616 |
| KCNH8 | E-VGWLHELGKRLESPYYGNN--------->-<-----------------TLGGPSIRSAYIA | 423 |
| CNGA1 | ---TWVYPD---INDP-------------->-<-------------------EFGRLARKYVY | 351 |
| CNGA2 | ---TWVYPN---ITDP-------------->-<-------------------EYGYLAREYIY | 326 |
| CNGA3 | ---SWVYPN---ISIP-------------->-<-------------------EHGRLSRKYIY | 354 |
| CNGA4 | ---AWVYPD---PAQP-------------->-<-------------------GFERLRRQYLY | 220 |
| CNGB1 | ---HWVYD---------------------->-<----------------------GVGNSYIR | 834 |
| CNGB3 | ---RWVYD---------------------->-<----------------------GEGNEYLR | 396 |
| HCN1 | ---CWVS-----LNEM-------------->-<-------------------VNDSWGKQYSY | 347 |
| HCN2 | ---CWVS-----INGM-------------->-<-------------------VNHSWSELYSF | 416 |
| HCN3 | ---CWVS-----INHM-------------->-<-------------------VNHSWGRQYSH | 300 |
| HCN4 | ---CWVS-----INNM-------------->-<-------------------VNNSWGKQYSY | 467 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G601C | c.1801G>T | Inherited Arrhythmia | LQTS | rs199472936 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | 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 | 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.G601S | c.1801G>A | Inherited Arrhythmia | LQTS | rs199472936 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. Hum Mutat. 1998 Suppl 1:S184-6. 9452080 | ||
| Inherited Arrhythmia | LQTS | Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. J Am Coll Cardiol. 1999 34(3):823-9. 10483966 | |||
| 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 | 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 | 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 | Trafficking-deficient hERG K⁺ channels linked to long QT syndrome are regulated by a microtubule-dependent quality control compartment in the ER. Am J Physiol Cell Physiol. 2011 301(1):C75-85. 21490315 | |||
| Inherited Arrhythmia | LQTS | Comparison of protein behavior between wild-type and G601S hERG in living cells by fluorescence correlation spectroscopy. J Physiol Sci. 2011 61(4):313-9. doi: 10.1007/s12576-011-0150-2. 21573751 | |||
| Inherited Arrhythmia | LQTS | Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel. Circulation. 1999 99(17):2290-4. 10226095 | |||
| Inherited Arrhythmia | LQTS | The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. J Biol Chem. 2002 277(7):4989-98. 11741928 | |||
| 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 | Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum. Am J Physiol Cell Physiol. 2013 305(9):C919-30. doi: 10.1152/ajpcell.00406.2012. 23864605 | |||
| 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 | |||
| p.Gly601Asp | c.1802G>A | Unknown | SIFT: Polyphen: | ||