No paralogue variants have been mapped to residue 178 for KCNQ1.
| KCNQ1 | ALATGT-LF-WMEIVLVVFFGTEYVVRLWS>A<GCRSKYVGLWGRLRFARKPISIIDLIVVVA | 208 |
| KCNQ2 | KSSEGA-LY-ILEIVTIVVFGVEYFVRIWA>A<GCCCRYRGWRGRLKFARKPFCVIDIMVLIA | 178 |
| KCNQ3 | TVSGDW-LL-LLETFAIFIFGAEFALRIWA>A<GCCCRYKGWRGRLKFARKPLCMLDIFVLIA | 208 |
| KCNQ4 | ELANEC-LL-ILEFVMIVVFGLEYIVRVWS>A<GCCCRYRGWQGRFRFARKPFCVIDFIVFVA | 184 |
| KCNQ5 | KLASSC-LL-ILEFVMIVVFGLEFIIRIWS>A<GCCCRYRGWQGRLRFARKPFCVIDTIVLIA | 212 |
| KCNA1 | NIFTDP-FF-IVETLCIIWFSFELVVR--->-<-----FFACPSKTDFFKNIMNFIDIVAIIP | 264 |
| KCNA10 | TMFTDP-FF-MVESTCIVWFTFELVLR--->-<-----FVVCPSKTDFFRNIMNIIDIISIIP | 314 |
| KCNA2 | TSFTDP-FF-IVETLCIIWFSFEFLVR--->-<-----FFACPSKAGFFTNIMNIIDIVAIIP | 265 |
| KCNA3 | SSFSDP-FF-VVETLCIIWFSFELLVR--->-<-----FFACPSKATFSRNIMNLIDIVAIIP | 338 |
| KCNA4 | TIFNDP-FF-IVETVCIVWFSFEFVVR--->-<-----CFACPSQALFFKNIMNIIDIVSILP | 414 |
| KCNA5 | RTLADP-FF-IVETTCVIWFTFELLVR--->-<-----FFACPSKAGFSRNIMNIIDVVAIFP | 367 |
| KCNA6 | SFFTDP-FF-LVETLCIVWFTFELLVR--->-<-----FSACPSKPAFFRNIMNIIDLVAIFP | 306 |
| KCNA7 | LPFNDP-FF-VVETLCICWFSFELLVR--->-<-----LLVCPSKAIFFKNVMNLIDFVAILP | 252 |
| KCNB1 | -STDNPQLA-HVEAVCIAWFTMEYLLR--->-<-----FLSSPKKWKFFKGPLNAIDLLAILP | 272 |
| KCNB2 | -LNDNRQLA-HVEAVCIAWFTMEYLLR--->-<-----FLSSPNKWKFFKGPLNVIDLLAILP | 276 |
| KCNC1 | EAETEA-FLTYIEGVCVVWFTFEFLMR--->-<-----VIFCPNKVEFIKNSLNIIDFVAILP | 288 |
| KCNC2 | EIETDP-ALTYVEGVCVVWFTFEFLVR--->-<-----IVFSPNKLEFIKNLLNIIDFVAILP | 325 |
| KCNC3 | EVETEP-FLTYVEGVCVVWFTFEFLMR--->-<-----ITFCPDKVEFLKSSLNIIDCVAILP | 391 |
| KCNC4 | EVETEP-ILTYIEGVCVLWFTLEFLVR--->-<-----IVCCPDTLDFVKNLLNIIDFVAILP | 324 |
| KCND1 | ERFPQA-FF-CMDTACVLIFTGEYLLR--->-<-----LFAAPSRCRFLRSVMSLIDVVAILP | 274 |
| KCND2 | ERYAVA-FF-CLDTACVMIFTVEYLLR--->-<-----LAAAPSRYRFVRSVMSIIDVVAILP | 272 |
| KCND3 | ERYSVA-FF-CLDTACVMIFTVEYLLR--->-<-----LFAAPSRYRFIRSVMSIIDVVAIMP | 269 |
| KCNF1 | -RVEHPTLE-NVETACIGWFTLEYLLR--->-<-----LFSSPNKLHFALSFMNIVDVLAILP | 265 |
| KCNG1 | SQMCHN-VF-IVESVCVGWFSLEFLLR--->-<-----LIQAPSKFAFLRSPLTLIDLVAILP | 311 |
| KCNG2 | SPKCRS-LF-VLETVCVAWFSFEFLLR--->-<-----SLQAESKCAFLRAPLNIIDILALLP | 261 |
| KCNG3 | GPGREP-SG-IIEAICIGWFTAECIVR--->-<-----FIVSKNKCEFVKRPLNIIDLLAITP | 264 |
| KCNG4 | SRKCYY-IF-IVETICVAWFSLEFCLR--->-<-----FVQAQDKCQFFQGPLNIIDILAISP | 305 |
| KCNS1 | GVRDDPVLR-RLEYFCIAWFSFEVSSR--->-<-----LLLAPSTRNFFCHPLNLIDIVSVLP | 315 |
| KCNS2 | -PGEDPRFE-IVEHFGIAWFTFELVAR--->-<-----FAVAPDFLKFFKNALNLIDLMSIVP | 270 |
| KCNS3 | --VDDPVLE-GVEIACIAWFTGELAVR--->-<-----LAAAPCQKKFWKNPLNIIDFVSIIP | 265 |
| KCNV1 | -WLDLQLLE-ILEYVCISWFTGEFVLR--->-<-----FLCVRDRCRFLRKVPNIIDLLAILP | 285 |
| KCNV2 | GPDLRPILE-HVEMLCMGFFTLEYLLR--->-<-----LASTPDLRRFARSALNLVDLVAILP | 345 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A178P | c.532G>C | Inherited Arrhythmia | LQTS | rs120074177 | 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 | Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation. 1997 96(6):1733-6. 9323054 | |||
| 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 | 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 | |||
| p.A178T | c.532G>A | Inherited Arrhythmia | LQTS | rs120074177 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 95(3):565-7. 9024139 | ||
| 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 | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Inherited Arrhythmia | LQTS | Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. Biochem J. 2014 462(1):133-42. doi: 10.1042/BJ20140425. 24912595 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||