No paralogue variants have been mapped to residue 534 for KCNH2.
| KCNH2 | ----------------LIGLLKTARLLRLV>R<VARKLDRY-----SEYGAAV-LFLLMCTFA | 558 |
| KCNH1 | -IPPPLEGRESQGISSLFSSLKVVRLLRLG>R<VARKLDHY-----IEYGAAV-LVLLVCVFG | 387 |
| KCNH3 | -Y-------------FGAHLLKTVRLLRLL>R<LLPRLDRY-----SQYSAVV-LTLLMAVFA | 368 |
| KCNH4 | -T-------------SLVHLLKTVRLLRLL>R<LLQKLERY-----SQCSAVV-LTLLMSVFA | 370 |
| KCNH5 | -------------ISSLFSSLKVVRLLRLG>R<VARKLDHY-----LEYGAAV-LVLLVCVFG | 357 |
| KCNH6 | -T-------------TLIGLLKTARLLRLV>R<VARKLDRY-----SEYGAAV-LFLLMCTFA | 409 |
| KCNH7 | -T-------------TLIGLLKTARLLRLV>R<VARKLDRY-----SEYGAAV-LMLLMCIFA | 560 |
| KCNH8 | -V-------------SLVHLLKTVRLLRLL>R<LLQKLDRY-----SQHSTIV-LTLLMSMFA | 364 |
| CNGA1 | ---------------PEIRLNRLLRFSRMF>E<FFQRTETR-----TNYPNIFRISNLVMYIV | 308 |
| CNGA2 | ---------------PEVRFNRLLHFARMF>E<FFDRTETR-----TNYPNIFRISNLVLYIL | 283 |
| CNGA3 | ---------------PEVRFNRLLKFSRLF>E<FFDRTETR-----TNYPNMFRIGNLVLYIL | 311 |
| CNGA4 | ---------------PTLRLNRFLRAPRLF>E<AFDRTETR-----TAYPNAFRIAKLMLYIF | 177 |
| CNGB1 | ---------------PLLRLPRCLKYMAFF>E<FNSRLESI-----LSKAYVYRVIRTTAYLL | 799 |
| CNGB3 | ---------------PMFRANRMLKYTSFF>E<FNHHLESI-----MDKAYIYRVIRTTGYLL | 361 |
| HCN1 | FT-------------KILSLLRLLRLSRLI>R<YIHQWEEIFHMTYDLASAVVRIFNLIGMML | 306 |
| HCN2 | FT-------------KILSLLRLLRLSRLI>R<YIHQWEEIFHMTYDLASAVMRICNLISMML | 375 |
| HCN3 | FT-------------KILSLLRLLRLSRLI>R<YIHQWEEIFHMTYDLASAVVRIFNLIGMML | 259 |
| HCN4 | FT-------------KILSLLRLLRLSRLI>R<YIHQWEEIFHMTYDLASAVVRIVNLIGMML | 426 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R534C | c.1600C>T | Inherited Arrhythmia | LQTS | rs199472916 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet. 1998 102(4):435-9. 9600240 | ||
| Inherited Arrhythmia | LQTS | Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQT2. Cardiovasc Res. 1999 44(2):283-93. 10690305 | |||
| Inherited Arrhythmia | LQTS | Identical twins with long QT syndrome associated with a missense mutation in the S4 region of the HERG. Jpn Heart J. 2000 41(3):399-404. 10987356 | |||
| 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 | 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 | 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 | 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.R534L | c.1601G>T | Inherited Arrhythmia | LQTS | rs199473516 | 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 | Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor. J Membr Biol. 2013 246(5):355-64. doi: 10.1007/s00232-013-9539-6. 23546015 | |||
| p.Arg534Ser | c.1600C>A | Unknown | SIFT: Polyphen: | ||