No paralogue variants have been mapped to residue 596 for KCNH2.
| KCNH2 | AIGNMEQPHMDSR----IGWLHNLGDQIGK>P<YNSS----------G--------------- | 601 |
| KCNH1 | SIGDYEIFDEDTKTIRNNSWLYQLAMDIGT>P<YQFN--------GSG-----------S--G | 438 |
| KCNH3 | YIGQREIESSESELPE-IGWLQELARRLET>P<YYLVGRRPAGGNSSGQSDNCSSSSEANGTG | 439 |
| KCNH4 | VIGRREMEANDPLLWD-IGWLHELGKRLEV>P<YVNG-------------------------- | 415 |
| KCNH5 | SIGDYEVIDEVTNTIQIDSWLYQLALSIGT>P<YRYN--------T-S-----------A--G | 407 |
| KCNH6 | AIGNVERPYLEHK----IGWLDSLGVQLGK>R<YNGS----------D-----------P--- | 453 |
| KCNH7 | AIGNVERPYLTDK----IGWLDSLGQQIGK>R<YNDS----------D-----------S--- | 604 |
| KCNH8 | VIGKMEREDNSLLKWE-VGWLHELGKRLES>P<YYGNN------------------------- | 410 |
| CNGA1 | SISKAIGFGND-------TWVYPD---IND>P<------------------------------ | 340 |
| CNGA2 | AISKSIGFGVD-------TWVYPN---ITD>P<------------------------------ | 315 |
| CNGA3 | AISKFIGFGTD-------SWVYPN---ISI>P<------------------------------ | 343 |
| CNGA4 | ALSRYLGFGRD-------AWVYPD---PAQ>P<------------------------------ | 209 |
| CNGB1 | WASAYQGLGST-------HWVYD------->-<------------------------------ | 826 |
| CNGB3 | WASNYEGIGTT-------RWVYD------->-<------------------------------ | 388 |
| HCN1 | LVPLLQDFPPD-------CWVS-----LNE>M<------------------------------ | 336 |
| HCN2 | LVPMLQDFPRN-------CWVS-----ING>M<------------------------------ | 405 |
| HCN3 | LVPMLQDFPPD-------CWVS-----INH>M<------------------------------ | 289 |
| HCN4 | LVPMLQDFPDD-------CWVS-----INN>M<------------------------------ | 456 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P596H | c.1787C>A | Inherited Arrhythmia | LQTS | rs199472933 | SIFT: tolerated Polyphen: benign |
| 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 | 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.P596L | c.1787C>T | Inherited Arrhythmia | LQTS | rs199472933 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | 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 | 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.P596R | c.1787C>G | Inherited Arrhythmia | LQTS | rs199472933 | SIFT: tolerated Polyphen: benign |
| Reports | 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 | 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.P596T | c.1786C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||
| p.P596A | c.1786C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. Hum Genomics. 2016 10(1):24. doi: 10.1186/s40246-016-0080-4. 27353043 | ||
| p.P596S | c.1786C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715 | ||
| p.Pro596Ala | c.1786C>G | Unknown | SIFT: Polyphen: | ||