Paralogue Annotation for KCNH2 residue 572

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 572
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 572

No paralogue variants have been mapped to residue 572 for KCNH2.



KCNH2SEYGAAV-LFLLMCTFALIAHWLACIWYAI>G<NMEQPHMDSR----IGWLHNLGDQIGKPYN598
KCNH1IEYGAAV-LVLLVCVFGLAAHWMACIWYSI>G<DYEIFDEDTKTIRNNSWLYQLAMDIGTPYQ431
KCNH3SQYSAVV-LTLLMAVFALLAHWVACVWFYI>G<QREIESSESELPE-IGWLQELARRLETPYY411
KCNH4SQCSAVV-LTLLMSVFALLAHWMACIWYVI>G<RREMEANDPLLWD-IGWLHELGKRLEVPYV413
KCNH5LEYGAAV-LVLLVCVFGLVAHWLACIWYSI>G<DYEVIDEVTNTIQIDSWLYQLALSIGTPYR401
KCNH6SEYGAAV-LFLLMCTFALIAHWLACIWYAI>G<NVERPYLEHK----IGWLDSLGVQLGKRYN449
KCNH7SEYGAAV-LMLLMCIFALIAHWLACIWYAI>G<NVERPYLTDK----IGWLDSLGQQIGKRYN600
KCNH8SQHSTIV-LTLLMSMFALLAHWMACIWYVI>G<KMEREDNSLLKWE-VGWLHELGKRLESPYY407
CNGA1TNYPNIFRISNLVMYIVIIIHWNACVFYSI>S<KAIGFGND-------TWVYPD---INDP--340
CNGA2TNYPNIFRISNLVLYILVIIHWNACIYYAI>S<KSIGFGVD-------TWVYPN---ITDP--315
CNGA3TNYPNMFRIGNLVLYILIIIHWNACIYFAI>S<KFIGFGTD-------SWVYPN---ISIP--343
CNGA4TAYPNAFRIAKLMLYIFVVIHWNSCLYFAL>S<RYLGFGRD-------AWVYPD---PAQP--209
CNGB1LSKAYVYRVIRTTAYLLYSLHLNSCLYYWA>S<AYQGLGST-------HWVYD----------826
CNGB3MDKAYIYRVIRTTGYLLFILHINACVYYWA>S<NYEGIGTT-------RWVYD----------388
HCN1DLASAVVRIFNLIGMMLLLCHWDGCLQFLV>P<LLQDFPPD-------CWVS-----LNEM--336
HCN2DLASAVMRICNLISMMLLLCHWDGCLQFLV>P<MLQDFPRN-------CWVS-----INGM--405
HCN3DLASAVVRIFNLIGMMLLLCHWDGCLQFLV>P<MLQDFPPD-------CWVS-----INHM--289
HCN4DLASAVVRIVNLIGMMLLLCHWDGCLQFLV>P<MLQDFPDD-------CWVS-----INNM--456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G572Cc.1714G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 51(1):86-97. 9693036
Inherited ArrhythmiaLQTS 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.G572Dc.1715G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.G572Rc.1714G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.G572Sc.1714G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067
Inherited ArrhythmiaLQTS [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 ArrhythmiaLQTS Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.G572Vc.1715G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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