No paralogue variants have been mapped to residue 191 for KCNQ1.
| KCNQ1 | IVLVVFFGTEYVVRLWSAGCRSKYVGLWGR>L<RFARKPISIIDLIVVVASMVVLCVG----- | 216 |
| KCNQ2 | IVTIVVFGVEYFVRIWAAGCCCRYRGWRGR>L<KFARKPFCVIDIMVLIASIAVLAAG----- | 186 |
| KCNQ3 | TFAIFIFGAEFALRIWAAGCCCRYKGWRGR>L<KFARKPLCMLDIFVLIASVPVVAVG----- | 216 |
| KCNQ4 | FVMIVVFGLEYIVRVWSAGCCCRYRGWQGR>F<RFARKPFCVIDFIVFVASVAVIAAG----- | 192 |
| KCNQ5 | FVMIVVFGLEFIIRIWSAGCCCRYRGWQGR>L<RFARKPFCVIDTIVLIASIAVVSAK----- | 220 |
| KCNA1 | TLCIIWFSFELVVR---------FFACPSK>T<DFFKNIMNFIDIVAIIPYFITLGTEIAEQE | 277 |
| KCNA10 | STCIVWFTFELVLR---------FVVCPSK>T<DFFRNIMNIIDIISIIPYFATLITELVQET | 327 |
| KCNA2 | TLCIIWFSFEFLVR---------FFACPSK>A<GFFTNIMNIIDIVAIIPYFITLGTELAEKP | 278 |
| KCNA3 | TLCIIWFSFELLVR---------FFACPSK>A<TFSRNIMNLIDIVAIIPYFITLGTELAERQ | 351 |
| KCNA4 | TVCIVWFSFEFVVR---------CFACPSQ>A<LFFKNIMNIIDIVSILPYFITLGTDLAQQQ | 427 |
| KCNA5 | TTCVIWFTFELLVR---------FFACPSK>A<GFSRNIMNIIDVVAIFPYFITLGTELAEQQ | 380 |
| KCNA6 | TLCIVWFTFELLVR---------FSACPSK>P<AFFRNIMNIIDLVAIFPYFITLGTELVQQQ | 319 |
| KCNA7 | TLCICWFSFELLVR---------LLVCPSK>A<IFFKNVMNLIDFVAILPYFVALGTELARQR | 265 |
| KCNB1 | AVCIAWFTMEYLLR---------FLSSPKK>W<KFFKGPLNAIDLLAILPYYVTIFLTES--- | 282 |
| KCNB2 | AVCIAWFTMEYLLR---------FLSSPNK>W<KFFKGPLNVIDLLAILPYYVTIFLTES--- | 286 |
| KCNC1 | GVCVVWFTFEFLMR---------VIFCPNK>V<EFIKNSLNIIDFVAILPFYLEVGLSG---- | 297 |
| KCNC2 | GVCVVWFTFEFLVR---------IVFSPNK>L<EFIKNLLNIIDFVAILPFYLEVGLSG---- | 334 |
| KCNC3 | GVCVVWFTFEFLMR---------ITFCPDK>V<EFLKSSLNIIDCVAILPFYLEVGLSG---- | 400 |
| KCNC4 | GVCVLWFTLEFLVR---------IVCCPDT>L<DFVKNLLNIIDFVAILPFYLEVGLSG---- | 333 |
| KCND1 | TACVLIFTGEYLLR---------LFAAPSR>C<RFLRSVMSLIDVVAILPYYIGLLVP----- | 282 |
| KCND2 | TACVMIFTVEYLLR---------LAAAPSR>Y<RFVRSVMSIIDVVAILPYYIGLVMT----- | 280 |
| KCND3 | TACVMIFTVEYLLR---------LFAAPSR>Y<RFIRSVMSIIDVVAIMPYYIGLVMT----- | 277 |
| KCNF1 | TACIGWFTLEYLLR---------LFSSPNK>L<HFALSFMNIVDVLAILPFYVSLTLTHL--- | 275 |
| KCNG1 | SVCVGWFSLEFLLR---------LIQAPSK>F<AFLRSPLTLIDLVAILPYYITLLVDGAAAG | 324 |
| KCNG2 | TVCVAWFSFEFLLR---------SLQAESK>C<AFLRAPLNIIDILALLPFYVSLLLGL---- | 270 |
| KCNG3 | AICIGWFTAECIVR---------FIVSKNK>C<EFVKRPLNIIDLLAITPYYISVLMTV---- | 273 |
| KCNG4 | TICVAWFSLEFCLR---------FVQAQDK>C<QFFQGPLNIIDILAISPYYVSLAVSEEPPE | 318 |
| KCNS1 | YFCIAWFSFEVSSR---------LLLAPST>R<NFFCHPLNLIDIVSVLPFYLTLLAGVALG- | 327 |
| KCNS2 | HFGIAWFTFELVAR---------FAVAPDF>L<KFFKNALNLIDLMSIVPFYITLVVNLV--- | 280 |
| KCNS3 | IACIAWFTGELAVR---------LAAAPCQ>K<KFWKNPLNIIDFVSIIPFYATLAVDTK--- | 275 |
| KCNV1 | YVCISWFTGEFVLR---------FLCVRDR>C<RFLRKVPNIIDLLAILPFYITLLVESLSG- | 297 |
| KCNV2 | MLCMGFFTLEYLLR---------LASTPDL>R<RFARSALNLVDLVAILPLYLQLLLECFTGE | 358 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L191P | c.572T>C | Inherited Arrhythmia | LQTS | rs199473401 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Hum Mutat. 2002 20(6):475-6. 12442276 | ||
| Inherited Arrhythmia | LQTS | A hydrophobicity-dependent motif responsible for surface expression of cardiac potassium channel. Cell Signal. 2009 21(2):349-55. 19041715 | |||