No paralogue variants have been mapped to residue 160 for KCNQ1.
| KCNQ1 | ------------------ALATGT-LF-WM>E<IVLVVFFGTEYVVRLWSAGCRSKYVGLWGR | 190 |
| KCNQ2 | ------------------KSSEGA-LY-IL>E<IVTIVVFGVEYFVRIWAAGCCCRYRGWRGR | 160 |
| KCNQ3 | ------------------TVSGDW-LL-LL>E<TFAIFIFGAEFALRIWAAGCCCRYKGWRGR | 190 |
| KCNQ4 | ------------------ELANEC-LL-IL>E<FVMIVVFGLEYIVRVWSAGCCCRYRGWQGR | 166 |
| KCNQ5 | ------------------KLASSC-LL-IL>E<FVMIVVFGLEFIIRIWSAGCCCRYRGWQGR | 194 |
| KCNA1 | ---D------NTTVIYNSNIFTDP-FF-IV>E<TLCIIWFSFELVVR---------FFACPSK | 246 |
| KCNA10 | ---L-----NMSKTVLSQTMFTDP-FF-MV>E<STCIVWFTFELVLR---------FVVCPSK | 296 |
| KCNA2 | ---S-----NSTIGYQQSTSFTDP-FF-IV>E<TLCIIWFSFEFLVR---------FFACPSK | 247 |
| KCNA3 | ---N-----STSGSRAGASSFSDP-FF-VV>E<TLCIIWFSFELLVR---------FFACPSK | 320 |
| KCNA4 | NDTS-----APHLENSGHTIFNDP-FF-IV>E<TVCIVWFSFEFVVR---------CFACPSQ | 396 |
| KCNA5 | APPS-----GPTVAPLLPRTLADP-FF-IV>E<TTCVIWFTFELLVR---------FFACPSK | 349 |
| KCNA6 | TPGEMGTGGSSSLSTLGGSFFTDP-FF-LV>E<TLCIVWFTFELLVR---------FSACPSK | 288 |
| KCNA7 | -NGS-----SQMPGNPPRLPFNDP-FF-VV>E<TLCICWFSFELLVR---------LLVCPSK | 234 |
| KCNB1 | -------------------STDNPQLA-HV>E<AVCIAWFTMEYLLR---------FLSSPKK | 254 |
| KCNB2 | -------------------LNDNRQLA-HV>E<AVCIAWFTMEYLLR---------FLSSPNK | 258 |
| KCNC1 | ---R-----NGTQVRYYREAETEA-FLTYI>E<GVCVVWFTFEFLMR---------VIFCPNK | 270 |
| KCNC2 | ---I-----NGTSVVLQYEIETDP-ALTYV>E<GVCVVWFTFEFLVR---------IVFSPNK | 307 |
| KCNC3 | ---G-----APPENITNVEVETEP-FLTYV>E<GVCVVWFTFEFLMR---------ITFCPDK | 373 |
| KCNC4 | ---G-----NITSVHFRREVETEP-ILTYI>E<GVCVLWFTLEFLVR---------IVCCPDT | 306 |
| KCND1 | -------------EQPCGERFPQA-FF-CM>D<TACVLIFTGEYLLR---------LFAAPSR | 256 |
| KCND2 | -------------ELPCGERYAVA-FF-CL>D<TACVMIFTVEYLLR---------LAAAPSR | 254 |
| KCND3 | -------------ELPCGERYSVA-FF-CL>D<TACVMIFTVEYLLR---------LFAAPSR | 251 |
| KCNF1 | -------------------RVEHPTLE-NV>E<TACIGWFTLEYLLR---------LFSSPNK | 247 |
| KCNG1 | ------------------SQMCHN-VF-IV>E<SVCVGWFSLEFLLR---------LIQAPSK | 293 |
| KCNG2 | ------------------SPKCRS-LF-VL>E<TVCVAWFSFEFLLR---------SLQAESK | 243 |
| KCNG3 | ----------DDRSRYSAGPGREP-SG-II>E<AICIGWFTAECIVR---------FIVSKNK | 246 |
| KCNG4 | ------------------SRKCYY-IF-IV>E<TICVAWFSLEFCLR---------FVQAQDK | 287 |
| KCNS1 | ---------AVAAGRSPEGVRDDPVLR-RL>E<YFCIAWFSFEVSSR---------LLLAPST | 297 |
| KCNS2 | -------------------PGEDPRFE-IV>E<HFGIAWFTFELVAR---------FAVAPDF | 252 |
| KCNS3 | --------------------VDDPVLE-GV>E<IACIAWFTGELAVR---------LAAAPCQ | 247 |
| KCNV1 | -------------------WLDLQLLE-IL>E<YVCISWFTGEFVLR---------FLCVRDR | 267 |
| KCNV2 | ------------------GPDLRPILE-HV>E<MLCMGFFTLEYLLR---------LASTPDL | 327 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E160K | c.478G>A | Inherited Arrhythmia | LQTS | rs199473453 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| 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 | 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 | |||
| p.E160V | c.479A>T | Inherited Arrhythmia | LQTS | rs199472691 | 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 | ||