No paralogue variants have been mapped to residue 146 for KCNQ1.
| KCNQ1 | PT-GWKCFVYHFAVFLIVLVCLIFSVLSTI>E<QYA--------------------------- | 149 |
| KCNQ2 | PR-G-WAFIYHAYVFLLVFSCLVLSVFSTI>K<EYE--------------------------- | 119 |
| KCNQ3 | PR-G-WALLYHALVFLIVLGCLILAVLTTF>K<EYE--------------------------- | 149 |
| KCNQ4 | PR-G-WAFVYHVFIFLLVFSCLVLSVLSTI>Q<EHQ--------------------------- | 125 |
| KCNQ5 | PR-G-WAFIYHAFVFLLVFGCLILSVFSTI>P<EHT--------------------------- | 153 |
| KCNA1 | PESSGPARVIAIVSVMVILISIVIFCLETL>P<ELKDDK-DF--------TG----------- | 200 |
| KCNA10 | PESSSAARAVAVVSVLVVVISITIFCLETL>P<EFREDR-EL--------KV----------- | 249 |
| KCNA2 | PESSGPARIIAIVSVMVILISIVSFCLETL>P<IFRDEN-ED--------MHGSG---V---- | 200 |
| KCNA3 | PESSGPARGIAIVSVLVILISIVIFCLETL>P<EFRDEK-DY--------PA-ST---SQD-- | 272 |
| KCNA4 | PESSSPARGIAIVSVLVILISIVIFCLETL>P<EFRDDR-DL--------VM-AL---SAG-- | 345 |
| KCNA5 | PESSGSARAIAIVSVLVILISIITFCLETL>P<EFRDER-ELLRHPPAP---------HQPPA | 293 |
| KCNA6 | PESSGPARGIAIVSVLVILISIVIFCLETL>P<QFRVDG-RGGNNGGVSRVS-PVSRGSQEEE | 225 |
| KCNA7 | PESSQAARVLAVVSVLVILVSIVVFCLETL>P<DFRDDR-DGTGL-----AA-AA---AAG-- | 184 |
| KCNB1 | PNSSVAAKILAIISIMFIVLSTIALSLNTL>P<ELQSLD-EF--------GQ----------- | 222 |
| KCNB2 | PNSSVAAKILAIVSILFIVLSTIALSLNTL>P<ELQETD-EF--------GQ----------- | 226 |
| KCNC1 | PYSSRYARYVAFASLFFILVSITTFCLETH>E<RFNPIV-NK--------TE-I----E---- | 225 |
| KCNC2 | PYSSRAARFIAFASLFFILVSITTFCLETH>E<AFNI---VK--------NK-T----E---- | 262 |
| KCNC3 | PYSSRAARYVAFASLFFILISITTFCLETH>E<GFIHIS-NK--------TV-T----QA--- | 326 |
| KCNC4 | PYSSRAARVVAFASLFFILVSITTFCLETH>E<AFNI---DR-NV-----TE-I----L---- | 261 |
| KCND1 | PHTSTAALVFYYVTGFFIAVSVIANVVETI>P<CRGSAR-RS--------SR----------- | 219 |
| KCND2 | PHTSTMALVFYYVTGFFIAVSVIANVVETV>P<CGS-SP-GH--------IK----------- | 217 |
| KCND3 | PHTSTLALVFYYVTGFFIAVSVITNVVETV>P<CGT-VP-G---------SK----------- | 214 |
| KCNF1 | PESSCPARVVAVLSFLLILVSSVVMCMGTI>P<ELQVLD-AE--------GN----------- | 215 |
| KCNG1 | PHSGLPGKVFACLSVLFVTVTAVNLSVSTL>P<SLREEEE-Q--------GH----------- | 260 |
| KCNG2 | PHSGLAGKLFACVSVSFVAVTAVGLCLSTM>P<DIRAEEE-R--------GE----------- | 210 |
| KCNG3 | PTSSLAAQILASVSVVFVIVSMVVLCASTL>P<DWRN-AAAD--------NR----------- | 204 |
| KCNG4 | PQSGLPGKVFACLSILFVATTAVSLCVSTM>P<DLRAEED-Q--------GE----------- | 254 |
| KCNS1 | PGYSLPSKLFSCVSISVVLASIAAMCIHSL>P<EYQARE-AA--------AA----------- | 253 |
| KCNS2 | PGYSVLSRVFSILSILVVMGSIITMCLNSL>P<DFQIPD-SQ--------GN----------- | 220 |
| KCNS3 | PAYCLSAKLIAISSLSVVLASIVAMCVHSM>S<EFQNED-GE--------------------- | 216 |
| KCNV1 | PGSSTAARIFGVISIIFVVVSIINMALMSA>E<L-----------------S----------- | 235 |
| KCNV2 | PFSSVAAKAIGVASSTFVLVSVVALALNTV>E<EMQQHS-GQ--------GE----------- | 293 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E146K | c.436G>A | Inherited Arrhythmia | LQTS | rs199472688 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| Inherited Arrhythmia | LQTS | Posthumous diagnosis of long QT syndrome from neonatal screening cards. Heart Rhythm. 2010 7(4):481-6. 20167303 | |||
| p.E146G | c.437A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Syncope and cardiac arrest during strenuous exercise associated with a novel mutation in LQTS1. Clin Case Rep. 2015 3(12):971-4. doi: 10.1002/ccr3.394. eCollection 20 26734131 | ||