No paralogue variants have been mapped to residue 147 for KCNQ1.
| KCNQ1 | T-GWKCFVYHFAVFLIVLVCLIFSVLSTIE>Q<YA---------------------------- | 149 |
| KCNQ2 | R-G-WAFIYHAYVFLLVFSCLVLSVFSTIK>E<YE---------------------------- | 119 |
| KCNQ3 | R-G-WALLYHALVFLIVLGCLILAVLTTFK>E<YE---------------------------- | 149 |
| KCNQ4 | R-G-WAFVYHVFIFLLVFSCLVLSVLSTIQ>E<HQ---------------------------- | 125 |
| KCNQ5 | R-G-WAFIYHAFVFLLVFGCLILSVFSTIP>E<HT---------------------------- | 153 |
| KCNA1 | ESSGPARVIAIVSVMVILISIVIFCLETLP>E<LKDDK-DF--------TG------------ | 200 |
| KCNA10 | ESSSAARAVAVVSVLVVVISITIFCLETLP>E<FREDR-EL--------KV------------ | 249 |
| KCNA2 | ESSGPARIIAIVSVMVILISIVSFCLETLP>I<FRDEN-ED--------MHGSG---V----- | 200 |
| KCNA3 | ESSGPARGIAIVSVLVILISIVIFCLETLP>E<FRDEK-DY--------PA-ST---SQD--- | 272 |
| KCNA4 | ESSSPARGIAIVSVLVILISIVIFCLETLP>E<FRDDR-DL--------VM-AL---SAG--- | 345 |
| KCNA5 | ESSGSARAIAIVSVLVILISIITFCLETLP>E<FRDER-ELLRHPPAP---------HQPPAP | 294 |
| KCNA6 | ESSGPARGIAIVSVLVILISIVIFCLETLP>Q<FRVDG-RGGNNGGVSRVS-PVSRGSQEEEE | 226 |
| KCNA7 | ESSQAARVLAVVSVLVILVSIVVFCLETLP>D<FRDDR-DGTGL-----AA-AA---AAG--- | 184 |
| KCNB1 | NSSVAAKILAIISIMFIVLSTIALSLNTLP>E<LQSLD-EF--------GQ------------ | 222 |
| KCNB2 | NSSVAAKILAIVSILFIVLSTIALSLNTLP>E<LQETD-EF--------GQ------------ | 226 |
| KCNC1 | YSSRYARYVAFASLFFILVSITTFCLETHE>R<FNPIV-NK--------TE-I----E----- | 225 |
| KCNC2 | YSSRAARFIAFASLFFILVSITTFCLETHE>A<FNI---VK--------NK-T----E----- | 262 |
| KCNC3 | YSSRAARYVAFASLFFILISITTFCLETHE>G<FIHIS-NK--------TV-T----QA---- | 326 |
| KCNC4 | YSSRAARVVAFASLFFILVSITTFCLETHE>A<FNI---DR-NV-----TE-I----L----- | 261 |
| KCND1 | HTSTAALVFYYVTGFFIAVSVIANVVETIP>C<RGSAR-RS--------SR------------ | 219 |
| KCND2 | HTSTMALVFYYVTGFFIAVSVIANVVETVP>C<GS-SP-GH--------IK------------ | 217 |
| KCND3 | HTSTLALVFYYVTGFFIAVSVITNVVETVP>C<GT-VP-G---------SK------------ | 214 |
| KCNF1 | ESSCPARVVAVLSFLLILVSSVVMCMGTIP>E<LQVLD-AE--------GN------------ | 215 |
| KCNG1 | HSGLPGKVFACLSVLFVTVTAVNLSVSTLP>S<LREEEE-Q--------GH------------ | 260 |
| KCNG2 | HSGLAGKLFACVSVSFVAVTAVGLCLSTMP>D<IRAEEE-R--------GE------------ | 210 |
| KCNG3 | TSSLAAQILASVSVVFVIVSMVVLCASTLP>D<WRN-AAAD--------NR------------ | 204 |
| KCNG4 | QSGLPGKVFACLSILFVATTAVSLCVSTMP>D<LRAEED-Q--------GE------------ | 254 |
| KCNS1 | GYSLPSKLFSCVSISVVLASIAAMCIHSLP>E<YQARE-AA--------AA------------ | 253 |
| KCNS2 | GYSVLSRVFSILSILVVMGSIITMCLNSLP>D<FQIPD-SQ--------GN------------ | 220 |
| KCNS3 | AYCLSAKLIAISSLSVVLASIVAMCVHSMS>E<FQNED-GE---------------------- | 216 |
| KCNV1 | GSSTAARIFGVISIIFVVVSIINMALMSAE>L<-----------------S------------ | 235 |
| KCNV2 | FSSVAAKAIGVASSTFVLVSVVALALNTVE>E<MQQHS-GQ--------GE------------ | 293 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q147R | c.440A>G | Inherited Arrhythmia | AF | rs199472689 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | AF | KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval. Heart Rhythm. 2007 4(12):1532-41. 17997361 | ||