No paralogue variants have been mapped to residue 179 for KCNQ1.
| KCNQ1 | LATGT-LF-WMEIVLVVFFGTEYVVRLWSA>G<CRSKYVGLWGRLRFARKPISIIDLIVVVAS | 209 |
| KCNQ2 | SSEGA-LY-ILEIVTIVVFGVEYFVRIWAA>G<CCCRYRGWRGRLKFARKPFCVIDIMVLIAS | 179 |
| KCNQ3 | VSGDW-LL-LLETFAIFIFGAEFALRIWAA>G<CCCRYKGWRGRLKFARKPLCMLDIFVLIAS | 209 |
| KCNQ4 | LANEC-LL-ILEFVMIVVFGLEYIVRVWSA>G<CCCRYRGWQGRFRFARKPFCVIDFIVFVAS | 185 |
| KCNQ5 | LASSC-LL-ILEFVMIVVFGLEFIIRIWSA>G<CCCRYRGWQGRLRFARKPFCVIDTIVLIAS | 213 |
| KCNA1 | IFTDP-FF-IVETLCIIWFSFELVVR---->-<----FFACPSKTDFFKNIMNFIDIVAIIPY | 265 |
| KCNA10 | MFTDP-FF-MVESTCIVWFTFELVLR---->-<----FVVCPSKTDFFRNIMNIIDIISIIPY | 315 |
| KCNA2 | SFTDP-FF-IVETLCIIWFSFEFLVR---->-<----FFACPSKAGFFTNIMNIIDIVAIIPY | 266 |
| KCNA3 | SFSDP-FF-VVETLCIIWFSFELLVR---->-<----FFACPSKATFSRNIMNLIDIVAIIPY | 339 |
| KCNA4 | IFNDP-FF-IVETVCIVWFSFEFVVR---->-<----CFACPSQALFFKNIMNIIDIVSILPY | 415 |
| KCNA5 | TLADP-FF-IVETTCVIWFTFELLVR---->-<----FFACPSKAGFSRNIMNIIDVVAIFPY | 368 |
| KCNA6 | FFTDP-FF-LVETLCIVWFTFELLVR---->-<----FSACPSKPAFFRNIMNIIDLVAIFPY | 307 |
| KCNA7 | PFNDP-FF-VVETLCICWFSFELLVR---->-<----LLVCPSKAIFFKNVMNLIDFVAILPY | 253 |
| KCNB1 | STDNPQLA-HVEAVCIAWFTMEYLLR---->-<----FLSSPKKWKFFKGPLNAIDLLAILPY | 273 |
| KCNB2 | LNDNRQLA-HVEAVCIAWFTMEYLLR---->-<----FLSSPNKWKFFKGPLNVIDLLAILPY | 277 |
| KCNC1 | AETEA-FLTYIEGVCVVWFTFEFLMR---->-<----VIFCPNKVEFIKNSLNIIDFVAILPF | 289 |
| KCNC2 | IETDP-ALTYVEGVCVVWFTFEFLVR---->-<----IVFSPNKLEFIKNLLNIIDFVAILPF | 326 |
| KCNC3 | VETEP-FLTYVEGVCVVWFTFEFLMR---->-<----ITFCPDKVEFLKSSLNIIDCVAILPF | 392 |
| KCNC4 | VETEP-ILTYIEGVCVLWFTLEFLVR---->-<----IVCCPDTLDFVKNLLNIIDFVAILPF | 325 |
| KCND1 | RFPQA-FF-CMDTACVLIFTGEYLLR---->-<----LFAAPSRCRFLRSVMSLIDVVAILPY | 275 |
| KCND2 | RYAVA-FF-CLDTACVMIFTVEYLLR---->-<----LAAAPSRYRFVRSVMSIIDVVAILPY | 273 |
| KCND3 | RYSVA-FF-CLDTACVMIFTVEYLLR---->-<----LFAAPSRYRFIRSVMSIIDVVAIMPY | 270 |
| KCNF1 | RVEHPTLE-NVETACIGWFTLEYLLR---->-<----LFSSPNKLHFALSFMNIVDVLAILPF | 266 |
| KCNG1 | QMCHN-VF-IVESVCVGWFSLEFLLR---->-<----LIQAPSKFAFLRSPLTLIDLVAILPY | 312 |
| KCNG2 | PKCRS-LF-VLETVCVAWFSFEFLLR---->-<----SLQAESKCAFLRAPLNIIDILALLPF | 262 |
| KCNG3 | PGREP-SG-IIEAICIGWFTAECIVR---->-<----FIVSKNKCEFVKRPLNIIDLLAITPY | 265 |
| KCNG4 | RKCYY-IF-IVETICVAWFSLEFCLR---->-<----FVQAQDKCQFFQGPLNIIDILAISPY | 306 |
| KCNS1 | VRDDPVLR-RLEYFCIAWFSFEVSSR---->-<----LLLAPSTRNFFCHPLNLIDIVSVLPF | 316 |
| KCNS2 | PGEDPRFE-IVEHFGIAWFTFELVAR---->-<----FAVAPDFLKFFKNALNLIDLMSIVPF | 271 |
| KCNS3 | -VDDPVLE-GVEIACIAWFTGELAVR---->-<----LAAAPCQKKFWKNPLNIIDFVSIIPF | 266 |
| KCNV1 | WLDLQLLE-ILEYVCISWFTGEFVLR---->-<----FLCVRDRCRFLRKVPNIIDLLAILPF | 286 |
| KCNV2 | PDLRPILE-HVEMLCMGFFTLEYLLR---->-<----LASTPDLRRFARSALNLVDLVAILPL | 346 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G179A | c.536G>C | Putative Benign | rs76737438 | SIFT: deleterious Polyphen: probably damaging | |
| p.G179S | c.535G>A | Inherited Arrhythmia | LQTS,JLNS | rs199473394 | 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 | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| 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 | JLNS | Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013 6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684 23392653 | |||
| 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 | ||||