No paralogue variants have been mapped to residue 187 for KCNQ1.
| KCNQ1 | -WMEIVLVVFFGTEYVVRLWSAGCRSKYVG>L<WGRLRFARKPISIIDLIVVVASMVVLCVG- | 216 |
| KCNQ2 | -ILEIVTIVVFGVEYFVRIWAAGCCCRYRG>W<RGRLKFARKPFCVIDIMVLIASIAVLAAG- | 186 |
| KCNQ3 | -LLETFAIFIFGAEFALRIWAAGCCCRYKG>W<RGRLKFARKPLCMLDIFVLIASVPVVAVG- | 216 |
| KCNQ4 | -ILEFVMIVVFGLEYIVRVWSAGCCCRYRG>W<QGRFRFARKPFCVIDFIVFVASVAVIAAG- | 192 |
| KCNQ5 | -ILEFVMIVVFGLEFIIRIWSAGCCCRYRG>W<QGRLRFARKPFCVIDTIVLIASIAVVSAK- | 220 |
| KCNA1 | -IVETLCIIWFSFELVVR---------FFA>C<PSKTDFFKNIMNFIDIVAIIPYFITLGTEI | 273 |
| KCNA10 | -MVESTCIVWFTFELVLR---------FVV>C<PSKTDFFRNIMNIIDIISIIPYFATLITEL | 323 |
| KCNA2 | -IVETLCIIWFSFEFLVR---------FFA>C<PSKAGFFTNIMNIIDIVAIIPYFITLGTEL | 274 |
| KCNA3 | -VVETLCIIWFSFELLVR---------FFA>C<PSKATFSRNIMNLIDIVAIIPYFITLGTEL | 347 |
| KCNA4 | -IVETVCIVWFSFEFVVR---------CFA>C<PSQALFFKNIMNIIDIVSILPYFITLGTDL | 423 |
| KCNA5 | -IVETTCVIWFTFELLVR---------FFA>C<PSKAGFSRNIMNIIDVVAIFPYFITLGTEL | 376 |
| KCNA6 | -LVETLCIVWFTFELLVR---------FSA>C<PSKPAFFRNIMNIIDLVAIFPYFITLGTEL | 315 |
| KCNA7 | -VVETLCICWFSFELLVR---------LLV>C<PSKAIFFKNVMNLIDFVAILPYFVALGTEL | 261 |
| KCNB1 | -HVEAVCIAWFTMEYLLR---------FLS>S<PKKWKFFKGPLNAIDLLAILPYYVTIFLTE | 281 |
| KCNB2 | -HVEAVCIAWFTMEYLLR---------FLS>S<PNKWKFFKGPLNVIDLLAILPYYVTIFLTE | 285 |
| KCNC1 | TYIEGVCVVWFTFEFLMR---------VIF>C<PNKVEFIKNSLNIIDFVAILPFYLEVGLSG | 297 |
| KCNC2 | TYVEGVCVVWFTFEFLVR---------IVF>S<PNKLEFIKNLLNIIDFVAILPFYLEVGLSG | 334 |
| KCNC3 | TYVEGVCVVWFTFEFLMR---------ITF>C<PDKVEFLKSSLNIIDCVAILPFYLEVGLSG | 400 |
| KCNC4 | TYIEGVCVLWFTLEFLVR---------IVC>C<PDTLDFVKNLLNIIDFVAILPFYLEVGLSG | 333 |
| KCND1 | -CMDTACVLIFTGEYLLR---------LFA>A<PSRCRFLRSVMSLIDVVAILPYYIGLLVP- | 282 |
| KCND2 | -CLDTACVMIFTVEYLLR---------LAA>A<PSRYRFVRSVMSIIDVVAILPYYIGLVMT- | 280 |
| KCND3 | -CLDTACVMIFTVEYLLR---------LFA>A<PSRYRFIRSVMSIIDVVAIMPYYIGLVMT- | 277 |
| KCNF1 | -NVETACIGWFTLEYLLR---------LFS>S<PNKLHFALSFMNIVDVLAILPFYVSLTLTH | 274 |
| KCNG1 | -IVESVCVGWFSLEFLLR---------LIQ>A<PSKFAFLRSPLTLIDLVAILPYYITLLVDG | 320 |
| KCNG2 | -VLETVCVAWFSFEFLLR---------SLQ>A<ESKCAFLRAPLNIIDILALLPFYVSLLLGL | 270 |
| KCNG3 | -IIEAICIGWFTAECIVR---------FIV>S<KNKCEFVKRPLNIIDLLAITPYYISVLMTV | 273 |
| KCNG4 | -IVETICVAWFSLEFCLR---------FVQ>A<QDKCQFFQGPLNIIDILAISPYYVSLAVSE | 314 |
| KCNS1 | -RLEYFCIAWFSFEVSSR---------LLL>A<PSTRNFFCHPLNLIDIVSVLPFYLTLLAGV | 324 |
| KCNS2 | -IVEHFGIAWFTFELVAR---------FAV>A<PDFLKFFKNALNLIDLMSIVPFYITLVVNL | 279 |
| KCNS3 | -GVEIACIAWFTGELAVR---------LAA>A<PCQKKFWKNPLNIIDFVSIIPFYATLAVDT | 274 |
| KCNV1 | -ILEYVCISWFTGEFVLR---------FLC>V<RDRCRFLRKVPNIIDLLAILPFYITLLVES | 294 |
| KCNV2 | -HVEMLCMGFFTLEYLLR---------LAS>T<PDLRRFARSALNLVDLVAILPLYLQLLLEC | 354 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L187P | c.560T>C | Inherited Arrhythmia | LQTS | rs199473399 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. BMC Med Genet. 2008 9:87. 18808722 | ||