No paralogue variants have been mapped to residue 132 for KCNQ1.
| KCNQ1 | ---VQGRVYNFLERPT-GWKCFVYHFAVFL>I<VLVCLIFSVLSTIEQYA------------- | 149 |
| KCNQ2 | ---LQNFLYNVLERPR-G-WAFIYHAYVFL>L<VFSCLVLSVFSTIKEYE------------- | 119 |
| KCNQ3 | ---IQTLIYDALERPR-G-WALLYHALVFL>I<VLGCLILAVLTTFKEYE------------- | 149 |
| KCNQ4 | ---LQNWVYNVLERPR-G-WAFVYHVFIFL>L<VFSCLVLSVLSTIQEHQ------------- | 125 |
| KCNQ5 | ---VQNYLYNVLERPR-G-WAFIYHAFVFL>L<VFGCLILSVFSTIPEHT------------- | 153 |
| KCNA1 | EKEYQRQVWLLFEYPESSGPARVIAIVSVM>V<ILISIVIFCLETLPELKDDK-DF------- | 198 |
| KCNA10 | TNDIHRQFWLLFEYPESSSAARAVAVVSVL>V<VVISITIFCLETLPEFREDR-EL------- | 247 |
| KCNA2 | ENEFQRQVWLLFEYPESSGPARIIAIVSVM>V<ILISIVSFCLETLPIFRDEN-ED------- | 194 |
| KCNA3 | RRDFQRQVWLLFEYPESSGPARGIAIVSVL>V<ILISIVIFCLETLPEFRDEK-DY------- | 265 |
| KCNA4 | ENEFKKQIWLLFEYPESSSPARGIAIVSVL>V<ILISIVIFCLETLPEFRDDR-DL------- | 338 |
| KCNA5 | RNEFQRQVWLIFEYPESSGSARAIAIVSVL>V<ILISIITFCLETLPEFRDER-ELLRHPPAP | 288 |
| KCNA6 | SQPFQRQVWLLFEYPESSGPARGIAIVSVL>V<ILISIVIFCLETLPQFRVDG-RGGNNGGVS | 212 |
| KCNA7 | RRAFARQLWLLFEFPESSQAARVLAVVSVL>V<ILVSIVVFCLETLPDFRDDR-DGTGL---- | 177 |
| KCNB1 | CAEKRKKLWDLLEKPNSSVAAKILAIISIM>F<IVLSTIALSLNTLPELQSLD-EF------- | 220 |
| KCNB2 | CPDKRKKLWDLLEKPNSSVAAKILAIVSIL>F<IVLSTIALSLNTLPELQETD-EF------- | 224 |
| KCNC1 | WRRWQPRIWALFEDPYSSRYARYVAFASLF>F<ILVSITTFCLETHERFNPIV-NK------- | 221 |
| KCNC2 | WRRLQPRMWALFEDPYSSRAARFIAFASLF>F<ILVSITTFCLETHEAFNI---VK------- | 258 |
| KCNC3 | WRRWQPRVWALFEDPYSSRAARYVAFASLF>F<ILISITTFCLETHEGFIHIS-NK------- | 321 |
| KCNC4 | CRGWQPRMWALFEDPYSSRAARVVAFASLF>F<ILVSITTFCLETHEAFNI---DR-NV---- | 257 |
| KCND1 | GSSLRQRLWRAFENPHTSTAALVFYYVTGF>F<IAVSVIANVVETIPCRGSAR-RS------- | 217 |
| KCND2 | MT-ARQRVWRAFENPHTSTMALVFYYVTGF>F<IAVSVIANVVETVPCGS-SP-GH------- | 215 |
| KCND3 | LS-FRQTMWRAFENPHTSTLALVFYYVTGF>F<IAVSVITNVVETVPCGT-VP-G-------- | 212 |
| KCNF1 | WRRCQKCVWKFLEKPESSCPARVVAVLSFL>L<ILVSSVVMCMGTIPELQVLD-AE------- | 213 |
| KCNG1 | GR-CMRRLRDMVERPHSGLPGKVFACLSVL>F<VTVTAVNLSVSTLPSLREEEE-Q------- | 258 |
| KCNG2 | QR-GRRRLRDVVDNPHSGLAGKLFACVSVS>F<VAVTAVGLCLSTMPDIRAEEE-R------- | 208 |
| KCNG3 | SRRWLERMRRTFEEPTSSLAAQILASVSVV>F<VIVSMVVLCASTLPDWRN-AAAD------- | 202 |
| KCNG4 | GL-CMNRLREMVENPQSGLPGKVFACLSIL>F<VATTAVSLCVSTMPDLRAEED-Q------- | 252 |
| KCNS1 | CGRLRRRLWLTMENPGYSLPSKLFSCVSIS>V<VLASIAAMCIHSLPEYQARE-AA------- | 251 |
| KCNS2 | LGNFRRQLWLALDNPGYSVLSRVFSILSIL>V<VMGSIITMCLNSLPDFQIPD-SQ------- | 218 |
| KCNS3 | FGQLRKKIWIRMENPAYCLSAKLIAISSLS>V<VLASIVAMCVHSMSEFQNED-GE------- | 216 |
| KCNV1 | CPTVRQKLWNILEKPGSSTAARIFGVISII>F<VVVSIINMALMSAEL--------------- | 234 |
| KCNV2 | YGPQRRRLWNLMEKPFSSVAAKAIGVASST>F<VLVSVVALALNTVEEMQQHS-GQ------- | 291 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I132L | c.394A>C | Inherited Arrhythmia | LQTS | rs199472684 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||