No paralogue variants have been mapped to residue 136 for KCNQ1.
| KCNQ1 | QGRVYNFLERPT-GWKCFVYHFAVFLIVLV>C<LIFSVLSTIEQYA----------------- | 149 |
| KCNQ2 | QNFLYNVLERPR-G-WAFIYHAYVFLLVFS>C<LVLSVFSTIKEYE----------------- | 119 |
| KCNQ3 | QTLIYDALERPR-G-WALLYHALVFLIVLG>C<LILAVLTTFKEYE----------------- | 149 |
| KCNQ4 | QNWVYNVLERPR-G-WAFVYHVFIFLLVFS>C<LVLSVLSTIQEHQ----------------- | 125 |
| KCNQ5 | QNYLYNVLERPR-G-WAFIYHAFVFLLVFG>C<LILSVFSTIPEHT----------------- | 153 |
| KCNA1 | QRQVWLLFEYPESSGPARVIAIVSVMVILI>S<IVIFCLETLPELKDDK-DF--------TG- | 200 |
| KCNA10 | HRQFWLLFEYPESSSAARAVAVVSVLVVVI>S<ITIFCLETLPEFREDR-EL--------KV- | 249 |
| KCNA2 | QRQVWLLFEYPESSGPARIIAIVSVMVILI>S<IVSFCLETLPIFRDEN-ED--------MHG | 197 |
| KCNA3 | QRQVWLLFEYPESSGPARGIAIVSVLVILI>S<IVIFCLETLPEFRDEK-DY--------PA- | 267 |
| KCNA4 | KKQIWLLFEYPESSSPARGIAIVSVLVILI>S<IVIFCLETLPEFRDDR-DL--------VM- | 340 |
| KCNA5 | QRQVWLIFEYPESSGSARAIAIVSVLVILI>S<IITFCLETLPEFRDER-ELLRHPPAP---- | 288 |
| KCNA6 | QRQVWLLFEYPESSGPARGIAIVSVLVILI>S<IVIFCLETLPQFRVDG-RGGNNGGVSRVS- | 215 |
| KCNA7 | ARQLWLLFEFPESSQAARVLAVVSVLVILV>S<IVVFCLETLPDFRDDR-DGTGL-----AA- | 179 |
| KCNB1 | RKKLWDLLEKPNSSVAAKILAIISIMFIVL>S<TIALSLNTLPELQSLD-EF--------GQ- | 222 |
| KCNB2 | RKKLWDLLEKPNSSVAAKILAIVSILFIVL>S<TIALSLNTLPELQETD-EF--------GQ- | 226 |
| KCNC1 | QPRIWALFEDPYSSRYARYVAFASLFFILV>S<ITTFCLETHERFNPIV-NK--------TE- | 223 |
| KCNC2 | QPRMWALFEDPYSSRAARFIAFASLFFILV>S<ITTFCLETHEAFNI---VK--------NK- | 260 |
| KCNC3 | QPRVWALFEDPYSSRAARYVAFASLFFILI>S<ITTFCLETHEGFIHIS-NK--------TV- | 323 |
| KCNC4 | QPRMWALFEDPYSSRAARVVAFASLFFILV>S<ITTFCLETHEAFNI---DR-NV-----TE- | 259 |
| KCND1 | RQRLWRAFENPHTSTAALVFYYVTGFFIAV>S<VIANVVETIPCRGSAR-RS--------SR- | 219 |
| KCND2 | RQRVWRAFENPHTSTMALVFYYVTGFFIAV>S<VIANVVETVPCGS-SP-GH--------IK- | 217 |
| KCND3 | RQTMWRAFENPHTSTLALVFYYVTGFFIAV>S<VITNVVETVPCGT-VP-G---------SK- | 214 |
| KCNF1 | QKCVWKFLEKPESSCPARVVAVLSFLLILV>S<SVVMCMGTIPELQVLD-AE--------GN- | 215 |
| KCNG1 | MRRLRDMVERPHSGLPGKVFACLSVLFVTV>T<AVNLSVSTLPSLREEEE-Q--------GH- | 260 |
| KCNG2 | RRRLRDVVDNPHSGLAGKLFACVSVSFVAV>T<AVGLCLSTMPDIRAEEE-R--------GE- | 210 |
| KCNG3 | LERMRRTFEEPTSSLAAQILASVSVVFVIV>S<MVVLCASTLPDWRN-AAAD--------NR- | 204 |
| KCNG4 | MNRLREMVENPQSGLPGKVFACLSILFVAT>T<AVSLCVSTMPDLRAEED-Q--------GE- | 254 |
| KCNS1 | RRRLWLTMENPGYSLPSKLFSCVSISVVLA>S<IAAMCIHSLPEYQARE-AA--------AA- | 253 |
| KCNS2 | RRQLWLALDNPGYSVLSRVFSILSILVVMG>S<IITMCLNSLPDFQIPD-SQ--------GN- | 220 |
| KCNS3 | RKKIWIRMENPAYCLSAKLIAISSLSVVLA>S<IVAMCVHSMSEFQNED-GE----------- | 216 |
| KCNV1 | RQKLWNILEKPGSSTAARIFGVISIIFVVV>S<IINMALMSAEL-----------------S- | 235 |
| KCNV2 | RRRLWNLMEKPFSSVAAKAIGVASSTFVLV>S<VVALALNTVEEMQQHS-GQ--------GE- | 293 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C136F | c.407G>T | Inherited Arrhythmia | LQTS | rs199472686 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||