No paralogue variants have been mapped to residue 134 for KCNQ1.
| KCNQ1 | -VQGRVYNFLERPT-GWKCFVYHFAVFLIV>L<VCLIFSVLSTIEQYA--------------- | 149 |
| KCNQ2 | -LQNFLYNVLERPR-G-WAFIYHAYVFLLV>F<SCLVLSVFSTIKEYE--------------- | 119 |
| KCNQ3 | -IQTLIYDALERPR-G-WALLYHALVFLIV>L<GCLILAVLTTFKEYE--------------- | 149 |
| KCNQ4 | -LQNWVYNVLERPR-G-WAFVYHVFIFLLV>F<SCLVLSVLSTIQEHQ--------------- | 125 |
| KCNQ5 | -VQNYLYNVLERPR-G-WAFIYHAFVFLLV>F<GCLILSVFSTIPEHT--------------- | 153 |
| KCNA1 | EYQRQVWLLFEYPESSGPARVIAIVSVMVI>L<ISIVIFCLETLPELKDDK-DF--------T | 199 |
| KCNA10 | DIHRQFWLLFEYPESSSAARAVAVVSVLVV>V<ISITIFCLETLPEFREDR-EL--------K | 248 |
| KCNA2 | EFQRQVWLLFEYPESSGPARIIAIVSVMVI>L<ISIVSFCLETLPIFRDEN-ED--------M | 195 |
| KCNA3 | DFQRQVWLLFEYPESSGPARGIAIVSVLVI>L<ISIVIFCLETLPEFRDEK-DY--------P | 266 |
| KCNA4 | EFKKQIWLLFEYPESSSPARGIAIVSVLVI>L<ISIVIFCLETLPEFRDDR-DL--------V | 339 |
| KCNA5 | EFQRQVWLIFEYPESSGSARAIAIVSVLVI>L<ISIITFCLETLPEFRDER-ELLRHPPAP-- | 288 |
| KCNA6 | PFQRQVWLLFEYPESSGPARGIAIVSVLVI>L<ISIVIFCLETLPQFRVDG-RGGNNGGVSRV | 214 |
| KCNA7 | AFARQLWLLFEFPESSQAARVLAVVSVLVI>L<VSIVVFCLETLPDFRDDR-DGTGL-----A | 178 |
| KCNB1 | EKRKKLWDLLEKPNSSVAAKILAIISIMFI>V<LSTIALSLNTLPELQSLD-EF--------G | 221 |
| KCNB2 | DKRKKLWDLLEKPNSSVAAKILAIVSILFI>V<LSTIALSLNTLPELQETD-EF--------G | 225 |
| KCNC1 | RWQPRIWALFEDPYSSRYARYVAFASLFFI>L<VSITTFCLETHERFNPIV-NK--------T | 222 |
| KCNC2 | RLQPRMWALFEDPYSSRAARFIAFASLFFI>L<VSITTFCLETHEAFNI---VK--------N | 259 |
| KCNC3 | RWQPRVWALFEDPYSSRAARYVAFASLFFI>L<ISITTFCLETHEGFIHIS-NK--------T | 322 |
| KCNC4 | GWQPRMWALFEDPYSSRAARVVAFASLFFI>L<VSITTFCLETHEAFNI---DR-NV-----T | 258 |
| KCND1 | SLRQRLWRAFENPHTSTAALVFYYVTGFFI>A<VSVIANVVETIPCRGSAR-RS--------S | 218 |
| KCND2 | -ARQRVWRAFENPHTSTMALVFYYVTGFFI>A<VSVIANVVETVPCGS-SP-GH--------I | 216 |
| KCND3 | -FRQTMWRAFENPHTSTLALVFYYVTGFFI>A<VSVITNVVETVPCGT-VP-G---------S | 213 |
| KCNF1 | RCQKCVWKFLEKPESSCPARVVAVLSFLLI>L<VSSVVMCMGTIPELQVLD-AE--------G | 214 |
| KCNG1 | -CMRRLRDMVERPHSGLPGKVFACLSVLFV>T<VTAVNLSVSTLPSLREEEE-Q--------G | 259 |
| KCNG2 | -GRRRLRDVVDNPHSGLAGKLFACVSVSFV>A<VTAVGLCLSTMPDIRAEEE-R--------G | 209 |
| KCNG3 | RWLERMRRTFEEPTSSLAAQILASVSVVFV>I<VSMVVLCASTLPDWRN-AAAD--------N | 203 |
| KCNG4 | -CMNRLREMVENPQSGLPGKVFACLSILFV>A<TTAVSLCVSTMPDLRAEED-Q--------G | 253 |
| KCNS1 | RLRRRLWLTMENPGYSLPSKLFSCVSISVV>L<ASIAAMCIHSLPEYQARE-AA--------A | 252 |
| KCNS2 | NFRRQLWLALDNPGYSVLSRVFSILSILVV>M<GSIITMCLNSLPDFQIPD-SQ--------G | 219 |
| KCNS3 | QLRKKIWIRMENPAYCLSAKLIAISSLSVV>L<ASIVAMCVHSMSEFQNED-GE--------- | 216 |
| KCNV1 | TVRQKLWNILEKPGSSTAARIFGVISIIFV>V<VSIINMALMSAEL----------------- | 234 |
| KCNV2 | PQRRRLWNLMEKPFSSVAAKAIGVASSTFV>L<VSVVALALNTVEEMQQHS-GQ--------G | 292 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L134P | c.401T>C | Inherited Arrhythmia | LQTS | rs199472685 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||