No paralogue variants have been mapped to residue 572 for KCNH2.
| KCNH2 | SEYGAAV-LFLLMCTFALIAHWLACIWYAI>G<NMEQPHMDSR----IGWLHNLGDQIGKPYN | 598 |
| KCNH1 | IEYGAAV-LVLLVCVFGLAAHWMACIWYSI>G<DYEIFDEDTKTIRNNSWLYQLAMDIGTPYQ | 431 |
| KCNH3 | SQYSAVV-LTLLMAVFALLAHWVACVWFYI>G<QREIESSESELPE-IGWLQELARRLETPYY | 411 |
| KCNH4 | SQCSAVV-LTLLMSVFALLAHWMACIWYVI>G<RREMEANDPLLWD-IGWLHELGKRLEVPYV | 413 |
| KCNH5 | LEYGAAV-LVLLVCVFGLVAHWLACIWYSI>G<DYEVIDEVTNTIQIDSWLYQLALSIGTPYR | 401 |
| KCNH6 | SEYGAAV-LFLLMCTFALIAHWLACIWYAI>G<NVERPYLEHK----IGWLDSLGVQLGKRYN | 449 |
| KCNH7 | SEYGAAV-LMLLMCIFALIAHWLACIWYAI>G<NVERPYLTDK----IGWLDSLGQQIGKRYN | 600 |
| KCNH8 | SQHSTIV-LTLLMSMFALLAHWMACIWYVI>G<KMEREDNSLLKWE-VGWLHELGKRLESPYY | 407 |
| CNGA1 | TNYPNIFRISNLVMYIVIIIHWNACVFYSI>S<KAIGFGND-------TWVYPD---INDP-- | 340 |
| CNGA2 | TNYPNIFRISNLVLYILVIIHWNACIYYAI>S<KSIGFGVD-------TWVYPN---ITDP-- | 315 |
| CNGA3 | TNYPNMFRIGNLVLYILIIIHWNACIYFAI>S<KFIGFGTD-------SWVYPN---ISIP-- | 343 |
| CNGA4 | TAYPNAFRIAKLMLYIFVVIHWNSCLYFAL>S<RYLGFGRD-------AWVYPD---PAQP-- | 209 |
| CNGB1 | LSKAYVYRVIRTTAYLLYSLHLNSCLYYWA>S<AYQGLGST-------HWVYD---------- | 826 |
| CNGB3 | MDKAYIYRVIRTTGYLLFILHINACVYYWA>S<NYEGIGTT-------RWVYD---------- | 388 |
| HCN1 | DLASAVVRIFNLIGMMLLLCHWDGCLQFLV>P<LLQDFPPD-------CWVS-----LNEM-- | 336 |
| HCN2 | DLASAVMRICNLISMMLLLCHWDGCLQFLV>P<MLQDFPRN-------CWVS-----INGM-- | 405 |
| HCN3 | DLASAVVRIFNLIGMMLLLCHWDGCLQFLV>P<MLQDFPPD-------CWVS-----INHM-- | 289 |
| HCN4 | DLASAVVRIVNLIGMMLLLCHWDGCLQFLV>P<MLQDFPDD-------CWVS-----INNM-- | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G572C | c.1714G>T | Inherited Arrhythmia | LQTS | rs9333649 | SIFT: deleterious Polyphen: probably damaging |
| 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 | 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.G572D | c.1715G>A | Inherited Arrhythmia | LQTS | rs199473423 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| 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 | 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.G572R | c.1714G>C | Inherited Arrhythmia | LQTS | rs9333649 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Hum Mutat. 1999 13(4):318-27. 10220146 | ||
| Inherited Arrhythmia | LQTS | Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. Clin Genet. 2000 57(2):125-30. 10735633 | |||
| Inherited Arrhythmia | LQTS | Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem. 2001 47(8):1390-5. 11468227 | |||
| Inherited Arrhythmia | LQTS | Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638 | |||
| Inherited Arrhythmia | LQTS | Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome. Can J Cardiol. 2010 26(8):417-22. 20931094 | |||
| 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.G572S | c.1714G>A | Inherited Arrhythmia | LQTS | rs9333649 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004 36 Suppl 1:53-63. 15176425 | ||
| 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 | [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. Zhonghua Nei Ke Za Zhi. 2006 45(6):463-6. 16831322 | |||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| 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 | Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. J Cardiovasc Electrophysiol. 2009 20(8):923-30. 19490267 | |||
| 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 | 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.G572V | c.1715G>T | Inherited Arrhythmia | LQTS | rs199473423 | SIFT: deleterious Polyphen: probably 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 | |||