No paralogue variants have been mapped to residue 190 for KCNQ1.
| KCNQ1 | EIVLVVFFGTEYVVRLWSAGCRSKYVGLWG>R<LRFARKPISIIDLIVVVASMVVLCVG---- | 216 |
| KCNQ2 | EIVTIVVFGVEYFVRIWAAGCCCRYRGWRG>R<LKFARKPFCVIDIMVLIASIAVLAAG---- | 186 |
| KCNQ3 | ETFAIFIFGAEFALRIWAAGCCCRYKGWRG>R<LKFARKPLCMLDIFVLIASVPVVAVG---- | 216 |
| KCNQ4 | EFVMIVVFGLEYIVRVWSAGCCCRYRGWQG>R<FRFARKPFCVIDFIVFVASVAVIAAG---- | 192 |
| KCNQ5 | EFVMIVVFGLEFIIRIWSAGCCCRYRGWQG>R<LRFARKPFCVIDTIVLIASIAVVSAK---- | 220 |
| KCNA1 | ETLCIIWFSFELVVR---------FFACPS>K<TDFFKNIMNFIDIVAIIPYFITLGTEIAEQ | 276 |
| KCNA10 | ESTCIVWFTFELVLR---------FVVCPS>K<TDFFRNIMNIIDIISIIPYFATLITELVQE | 326 |
| KCNA2 | ETLCIIWFSFEFLVR---------FFACPS>K<AGFFTNIMNIIDIVAIIPYFITLGTELAEK | 277 |
| KCNA3 | ETLCIIWFSFELLVR---------FFACPS>K<ATFSRNIMNLIDIVAIIPYFITLGTELAER | 350 |
| KCNA4 | ETVCIVWFSFEFVVR---------CFACPS>Q<ALFFKNIMNIIDIVSILPYFITLGTDLAQQ | 426 |
| KCNA5 | ETTCVIWFTFELLVR---------FFACPS>K<AGFSRNIMNIIDVVAIFPYFITLGTELAEQ | 379 |
| KCNA6 | ETLCIVWFTFELLVR---------FSACPS>K<PAFFRNIMNIIDLVAIFPYFITLGTELVQQ | 318 |
| KCNA7 | ETLCICWFSFELLVR---------LLVCPS>K<AIFFKNVMNLIDFVAILPYFVALGTELARQ | 264 |
| KCNB1 | EAVCIAWFTMEYLLR---------FLSSPK>K<WKFFKGPLNAIDLLAILPYYVTIFLTES-- | 282 |
| KCNB2 | EAVCIAWFTMEYLLR---------FLSSPN>K<WKFFKGPLNVIDLLAILPYYVTIFLTES-- | 286 |
| KCNC1 | EGVCVVWFTFEFLMR---------VIFCPN>K<VEFIKNSLNIIDFVAILPFYLEVGLSG--- | 297 |
| KCNC2 | EGVCVVWFTFEFLVR---------IVFSPN>K<LEFIKNLLNIIDFVAILPFYLEVGLSG--- | 334 |
| KCNC3 | EGVCVVWFTFEFLMR---------ITFCPD>K<VEFLKSSLNIIDCVAILPFYLEVGLSG--- | 400 |
| KCNC4 | EGVCVLWFTLEFLVR---------IVCCPD>T<LDFVKNLLNIIDFVAILPFYLEVGLSG--- | 333 |
| KCND1 | DTACVLIFTGEYLLR---------LFAAPS>R<CRFLRSVMSLIDVVAILPYYIGLLVP---- | 282 |
| KCND2 | DTACVMIFTVEYLLR---------LAAAPS>R<YRFVRSVMSIIDVVAILPYYIGLVMT---- | 280 |
| KCND3 | DTACVMIFTVEYLLR---------LFAAPS>R<YRFIRSVMSIIDVVAIMPYYIGLVMT---- | 277 |
| KCNF1 | ETACIGWFTLEYLLR---------LFSSPN>K<LHFALSFMNIVDVLAILPFYVSLTLTHL-- | 275 |
| KCNG1 | ESVCVGWFSLEFLLR---------LIQAPS>K<FAFLRSPLTLIDLVAILPYYITLLVDGAAA | 323 |
| KCNG2 | ETVCVAWFSFEFLLR---------SLQAES>K<CAFLRAPLNIIDILALLPFYVSLLLGL--- | 270 |
| KCNG3 | EAICIGWFTAECIVR---------FIVSKN>K<CEFVKRPLNIIDLLAITPYYISVLMTV--- | 273 |
| KCNG4 | ETICVAWFSLEFCLR---------FVQAQD>K<CQFFQGPLNIIDILAISPYYVSLAVSEEPP | 317 |
| KCNS1 | EYFCIAWFSFEVSSR---------LLLAPS>T<RNFFCHPLNLIDIVSVLPFYLTLLAGVALG | 327 |
| KCNS2 | EHFGIAWFTFELVAR---------FAVAPD>F<LKFFKNALNLIDLMSIVPFYITLVVNLV-- | 280 |
| KCNS3 | EIACIAWFTGELAVR---------LAAAPC>Q<KKFWKNPLNIIDFVSIIPFYATLAVDTK-- | 275 |
| KCNV1 | EYVCISWFTGEFVLR---------FLCVRD>R<CRFLRKVPNIIDLLAILPFYITLLVESLSG | 297 |
| KCNV2 | EMLCMGFFTLEYLLR---------LASTPD>L<RRFARSALNLVDLVAILPLYLQLLLECFTG | 357 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R190L | c.569G>T | Inherited Arrhythmia | LQTS | rs120074178 | 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 | A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters. Heart Rhythm. 2010 7(4):531-3. 20138589 | |||
| p.R190Q | c.569G>A | Inherited Arrhythmia | LQTS,JLNS | rs120074178 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996 12(1):17-23. 8528244 | ||
| Inherited Arrhythmia | LQTS | KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997 96(9):2778-81. 9386136 | |||
| Inherited Arrhythmia | LQTS | Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. Cardiovasc Res. 2000 45(4):971-80. 10728423 | |||
| Inherited Arrhythmia | LQTS | Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638 | |||
| Inherited Arrhythmia | LQTS | Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125 | |||
| Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| 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 | 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 | Functional effects of mutations in KvLQT1 that cause long QT syndrome. J Cardiovasc Electrophysiol. 1999 10(6):817-26. 10376919 | |||
| Inherited Arrhythmia | LQTS | Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695 | |||
| 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 | Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. Circulation. 2012 125(16):1988-96. 22456477 | |||
| Inherited Arrhythmia | JLNS | Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. J Cardiovasc Dis Res. 2012 3(2):67-75. 22629021 | |||
| 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 | |||
| Unknown | Patient-specific induced pluripotent stem-cell models for long-QT syndrome. N Engl J Med. 2010 363(15):1397-409. doi: 10.1056/NEJMoa0908679. 20660394 | ||||
| p.R190W | c.568C>T | Inherited Arrhythmia | LQTS,JLNS | rs199473662 | 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 | JLNS | Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. Europace. 2012 22539601 | |||
| Other Cardiac Phenotype | The Prevalence of Mutations in KCNQ1, KCNH2, and SCN5A in an Unselected National Cohort of Young Sudden Unexplained Death Cases. J Cardiovasc Electrophysiol. 2012 23(10):1092-1098. doi: 10.1111/j.1540-8167.2012.02 22882672 | ||||
| Inherited Arrhythmia | LQTS | Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family. Europace. 2015 25825456 | |||
| p.Arg190Pro | c.569G>C | Unknown | SIFT: Polyphen: | ||