No paralogue variants have been mapped to residue 194 for KCNQ1.
| KCNQ1 | VVFFGTEYVVRLWSAGCRSKYVGLWGRLRF>A<RKPISIIDLIVVVASMVVLCVG-------- | 216 |
| KCNQ2 | IVVFGVEYFVRIWAAGCCCRYRGWRGRLKF>A<RKPFCVIDIMVLIASIAVLAAG-------- | 186 |
| KCNQ3 | IFIFGAEFALRIWAAGCCCRYKGWRGRLKF>A<RKPLCMLDIFVLIASVPVVAVG-------- | 216 |
| KCNQ4 | IVVFGLEYIVRVWSAGCCCRYRGWQGRFRF>A<RKPFCVIDFIVFVASVAVIAAG-------- | 192 |
| KCNQ5 | IVVFGLEFIIRIWSAGCCCRYRGWQGRLRF>A<RKPFCVIDTIVLIASIAVVSAK-------- | 220 |
| KCNA1 | IIWFSFELVVR---------FFACPSKTDF>F<KNIMNFIDIVAIIPYFITLGTEIAEQEG-- | 278 |
| KCNA10 | IVWFTFELVLR---------FVVCPSKTDF>F<RNIMNIIDIISIIPYFATLITELVQETEP- | 329 |
| KCNA2 | IIWFSFEFLVR---------FFACPSKAGF>F<TNIMNIIDIVAIIPYFITLGTELAEKPE-- | 279 |
| KCNA3 | IIWFSFELLVR---------FFACPSKATF>S<RNIMNLIDIVAIIPYFITLGTELAERQ--- | 351 |
| KCNA4 | IVWFSFEFVVR---------CFACPSQALF>F<KNIMNIIDIVSILPYFITLGTDLAQQQGG- | 429 |
| KCNA5 | VIWFTFELLVR---------FFACPSKAGF>S<RNIMNIIDVVAIFPYFITLGTELAEQQ--- | 380 |
| KCNA6 | IVWFTFELLVR---------FSACPSKPAF>F<RNIMNIIDLVAIFPYFITLGTELVQQQEQQ | 322 |
| KCNA7 | ICWFSFELLVR---------LLVCPSKAIF>F<KNVMNLIDFVAILPYFVALGTELARQR--- | 265 |
| KCNB1 | IAWFTMEYLLR---------FLSSPKKWKF>F<KGPLNAIDLLAILPYYVTIFLTES---N-- | 283 |
| KCNB2 | IAWFTMEYLLR---------FLSSPNKWKF>F<KGPLNVIDLLAILPYYVTIFLTES---N-- | 287 |
| KCNC1 | VVWFTFEFLMR---------VIFCPNKVEF>I<KNSLNIIDFVAILPFYLEVGLSG------- | 297 |
| KCNC2 | VVWFTFEFLVR---------IVFSPNKLEF>I<KNLLNIIDFVAILPFYLEVGLSG------- | 334 |
| KCNC3 | VVWFTFEFLMR---------ITFCPDKVEF>L<KSSLNIIDCVAILPFYLEVGLSG------- | 400 |
| KCNC4 | VLWFTLEFLVR---------IVCCPDTLDF>V<KNLLNIIDFVAILPFYLEVGLSG------- | 333 |
| KCND1 | VLIFTGEYLLR---------LFAAPSRCRF>L<RSVMSLIDVVAILPYYIGLLVP-------- | 282 |
| KCND2 | VMIFTVEYLLR---------LAAAPSRYRF>V<RSVMSIIDVVAILPYYIGLVMT-------- | 280 |
| KCND3 | VMIFTVEYLLR---------LFAAPSRYRF>I<RSVMSIIDVVAIMPYYIGLVMT-------- | 277 |
| KCNF1 | IGWFTLEYLLR---------LFSSPNKLHF>A<LSFMNIVDVLAILPFYVSLTLTHL------ | 275 |
| KCNG1 | VGWFSLEFLLR---------LIQAPSKFAF>L<RSPLTLIDLVAILPYYITLLVDGAAAGRR- | 326 |
| KCNG2 | VAWFSFEFLLR---------SLQAESKCAF>L<RAPLNIIDILALLPFYVSLLLGL-----A- | 271 |
| KCNG3 | IGWFTAECIVR---------FIVSKNKCEF>V<KRPLNIIDLLAITPYYISVLMTV------- | 273 |
| KCNG4 | VAWFSLEFCLR---------FVQAQDKCQF>F<QGPLNIIDILAISPYYVSLAVSEEPPEDG- | 320 |
| KCNS1 | IAWFSFEVSSR---------LLLAPSTRNF>F<CHPLNLIDIVSVLPFYLTLLAGVALG-D-- | 328 |
| KCNS2 | IAWFTFELVAR---------FAVAPDFLKF>F<KNALNLIDLMSIVPFYITLVVNLV---V-- | 281 |
| KCNS3 | IAWFTGELAVR---------LAAAPCQKKF>W<KNPLNIIDFVSIIPFYATLAVDTK---E-- | 276 |
| KCNV1 | ISWFTGEFVLR---------FLCVRDRCRF>L<RKVPNIIDLLAILPFYITLLVESLSG-S-- | 298 |
| KCNV2 | MGFFTLEYLLR---------LASTPDLRRF>A<RSALNLVDLVAILPLYLQLLLECFTGEGH- | 360 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A194P | c.580G>C | Inherited Arrhythmia | LQTS | rs199472699 | 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 | ||