No paralogue variants have been mapped to residue 126 for KCNQ1.
| KCNQ1 | ---------VQGRVYNFLERPT-GWKCFVY>H<FAVFLIVLVCLIFSVLSTIEQYA------- | 149 |
| KCNQ2 | ---------LQNFLYNVLERPR-G-WAFIY>H<AYVFLLVFSCLVLSVFSTIKEYE------- | 119 |
| KCNQ3 | ---------IQTLIYDALERPR-G-WALLY>H<ALVFLIVLGCLILAVLTTFKEYE------- | 149 |
| KCNQ4 | ---------LQNWVYNVLERPR-G-WAFVY>H<VFIFLLVFSCLVLSVLSTIQEHQ------- | 125 |
| KCNQ5 | ---------VQNYLYNVLERPR-G-WAFIY>H<AFVFLLVFGCLILSVFSTIPEHT------- | 153 |
| KCNA1 | ----P-EKEYQRQVWLLFEYPESSGPARVI>A<IVSVMVILISIVIFCLETLPELKDDK-DF- | 198 |
| KCNA10 | ----P-TNDIHRQFWLLFEYPESSSAARAV>A<VVSVLVVVISITIFCLETLPEFREDR-EL- | 247 |
| KCNA2 | ----P-ENEFQRQVWLLFEYPESSGPARII>A<IVSVMVILISIVSFCLETLPIFRDEN-ED- | 194 |
| KCNA3 | ----P-RRDFQRQVWLLFEYPESSGPARGI>A<IVSVLVILISIVIFCLETLPEFRDEK-DY- | 265 |
| KCNA4 | ----P-ENEFKKQIWLLFEYPESSSPARGI>A<IVSVLVILISIVIFCLETLPEFRDDR-DL- | 338 |
| KCNA5 | ----P-RNEFQRQVWLIFEYPESSGSARAI>A<IVSVLVILISIITFCLETLPEFRDER-ELL | 282 |
| KCNA6 | ----P-SQPFQRQVWLLFEYPESSGPARGI>A<IVSVLVILISIVIFCLETLPQFRVDG-RGG | 206 |
| KCNA7 | ----P-RRAFARQLWLLFEFPESSQAARVL>A<VVSVLVILVSIVVFCLETLPDFRDDR-DGT | 175 |
| KCNB1 | DNTC--CAEKRKKLWDLLEKPNSSVAAKIL>A<IISIMFIVLSTIALSLNTLPELQSLD-EF- | 220 |
| KCNB2 | DNTC--CPDKRKKLWDLLEKPNSSVAAKIL>A<IVSILFIVLSTIALSLNTLPELQETD-EF- | 224 |
| KCNC1 | RPGGF-WRRWQPRIWALFEDPYSSRYARYV>A<FASLFFILVSITTFCLETHERFNPIV-NK- | 221 |
| KCNC2 | KSGR--WRRLQPRMWALFEDPYSSRAARFI>A<FASLFFILVSITTFCLETHEAFNI---VK- | 258 |
| KCNC3 | AGGTW-WRRWQPRVWALFEDPYSSRAARYV>A<FASLFFILISITTFCLETHEGFIHIS-NK- | 321 |
| KCNC4 | GSGG--CRGWQPRMWALFEDPYSSRAARVV>A<FASLFFILVSITTFCLETHEAFNI---DR- | 255 |
| KCND1 | ----PAGSSLRQRLWRAFENPHTSTAALVF>Y<YVTGFFIAVSVIANVVETIPCRGSAR-RS- | 217 |
| KCND2 | ----PTMT-ARQRVWRAFENPHTSTMALVF>Y<YVTGFFIAVSVIANVVETVPCGS-SP-GH- | 215 |
| KCND3 | ----PSLS-FRQTMWRAFENPHTSTLALVF>Y<YVTGFFIAVSVITNVVETVPCGT-VP-G-- | 212 |
| KCNF1 | AEGR--WRRCQKCVWKFLEKPESSCPARVV>A<VLSFLLILVSSVVMCMGTIPELQVLD-AE- | 213 |
| KCNG1 | GEGRL-GR-CMRRLRDMVERPHSGLPGKVF>A<CLSVLFVTVTAVNLSVSTLPSLREEEE-Q- | 258 |
| KCNG2 | PRGRL-QR-GRRRLRDVVDNPHSGLAGKLF>A<CVSVSFVAVTAVGLCLSTMPDIRAEEE-R- | 208 |
| KCNG3 | AEAAP-SRRWLERMRRTFEEPTSSLAAQIL>A<SVSVVFVIVSMVVLCASTLPDWRN-AAAD- | 202 |
| KCNG4 | HSSRW-GL-CMNRLREMVENPQSGLPGKVF>A<CLSILFVATTAVSLCVSTMPDLRAEED-Q- | 252 |
| KCNS1 | GAAR--CGRLRRRLWLTMENPGYSLPSKLF>S<CVSISVVLASIAAMCIHSLPEYQARE-AA- | 251 |
| KCNS2 | DGQP--LGNFRRQLWLALDNPGYSVLSRVF>S<ILSILVVMGSIITMCLNSLPDFQIPD-SQ- | 218 |
| KCNS3 | DTLR--FGQLRKKIWIRMENPAYCLSAKLI>A<ISSLSVVLASIVAMCVHSMSEFQNED-GE- | 216 |
| KCNV1 | SQGP--CPTVRQKLWNILEKPGSSTAARIF>G<VISIIFVVVSIINMALMSAEL--------- | 234 |
| KCNV2 | RDMRF-YGPQRRRLWNLMEKPFSSVAAKAI>G<VASSTFVLVSVVALALNTVEEMQQHS-GQ- | 291 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.H126D | c.376C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||
| p.His126Leu | c.377A>T | Unknown | SIFT: Polyphen: | ||