No paralogue variants have been mapped to residue 127 for KCNQ1.
| KCNQ1 | --------VQGRVYNFLERPT-GWKCFVYH>F<AVFLIVLVCLIFSVLSTIEQYA-------- | 149 |
| KCNQ2 | --------LQNFLYNVLERPR-G-WAFIYH>A<YVFLLVFSCLVLSVFSTIKEYE-------- | 119 |
| KCNQ3 | --------IQTLIYDALERPR-G-WALLYH>A<LVFLIVLGCLILAVLTTFKEYE-------- | 149 |
| KCNQ4 | --------LQNWVYNVLERPR-G-WAFVYH>V<FIFLLVFSCLVLSVLSTIQEHQ-------- | 125 |
| KCNQ5 | --------VQNYLYNVLERPR-G-WAFIYH>A<FVFLLVFGCLILSVFSTIPEHT-------- | 153 |
| KCNA1 | ---P-EKEYQRQVWLLFEYPESSGPARVIA>I<VSVMVILISIVIFCLETLPELKDDK-DF-- | 198 |
| KCNA10 | ---P-TNDIHRQFWLLFEYPESSSAARAVA>V<VSVLVVVISITIFCLETLPEFREDR-EL-- | 247 |
| KCNA2 | ---P-ENEFQRQVWLLFEYPESSGPARIIA>I<VSVMVILISIVSFCLETLPIFRDEN-ED-- | 194 |
| KCNA3 | ---P-RRDFQRQVWLLFEYPESSGPARGIA>I<VSVLVILISIVIFCLETLPEFRDEK-DY-- | 265 |
| KCNA4 | ---P-ENEFKKQIWLLFEYPESSSPARGIA>I<VSVLVILISIVIFCLETLPEFRDDR-DL-- | 338 |
| KCNA5 | ---P-RNEFQRQVWLIFEYPESSGSARAIA>I<VSVLVILISIITFCLETLPEFRDER-ELLR | 283 |
| KCNA6 | ---P-SQPFQRQVWLLFEYPESSGPARGIA>I<VSVLVILISIVIFCLETLPQFRVDG-RGGN | 207 |
| KCNA7 | ---P-RRAFARQLWLLFEFPESSQAARVLA>V<VSVLVILVSIVVFCLETLPDFRDDR-DGTG | 176 |
| KCNB1 | NTC--CAEKRKKLWDLLEKPNSSVAAKILA>I<ISIMFIVLSTIALSLNTLPELQSLD-EF-- | 220 |
| KCNB2 | NTC--CPDKRKKLWDLLEKPNSSVAAKILA>I<VSILFIVLSTIALSLNTLPELQETD-EF-- | 224 |
| KCNC1 | PGGF-WRRWQPRIWALFEDPYSSRYARYVA>F<ASLFFILVSITTFCLETHERFNPIV-NK-- | 221 |
| KCNC2 | SGR--WRRLQPRMWALFEDPYSSRAARFIA>F<ASLFFILVSITTFCLETHEAFNI---VK-- | 258 |
| KCNC3 | GGTW-WRRWQPRVWALFEDPYSSRAARYVA>F<ASLFFILISITTFCLETHEGFIHIS-NK-- | 321 |
| KCNC4 | SGG--CRGWQPRMWALFEDPYSSRAARVVA>F<ASLFFILVSITTFCLETHEAFNI---DR-N | 256 |
| KCND1 | ---PAGSSLRQRLWRAFENPHTSTAALVFY>Y<VTGFFIAVSVIANVVETIPCRGSAR-RS-- | 217 |
| KCND2 | ---PTMT-ARQRVWRAFENPHTSTMALVFY>Y<VTGFFIAVSVIANVVETVPCGS-SP-GH-- | 215 |
| KCND3 | ---PSLS-FRQTMWRAFENPHTSTLALVFY>Y<VTGFFIAVSVITNVVETVPCGT-VP-G--- | 212 |
| KCNF1 | EGR--WRRCQKCVWKFLEKPESSCPARVVA>V<LSFLLILVSSVVMCMGTIPELQVLD-AE-- | 213 |
| KCNG1 | EGRL-GR-CMRRLRDMVERPHSGLPGKVFA>C<LSVLFVTVTAVNLSVSTLPSLREEEE-Q-- | 258 |
| KCNG2 | RGRL-QR-GRRRLRDVVDNPHSGLAGKLFA>C<VSVSFVAVTAVGLCLSTMPDIRAEEE-R-- | 208 |
| KCNG3 | EAAP-SRRWLERMRRTFEEPTSSLAAQILA>S<VSVVFVIVSMVVLCASTLPDWRN-AAAD-- | 202 |
| KCNG4 | SSRW-GL-CMNRLREMVENPQSGLPGKVFA>C<LSILFVATTAVSLCVSTMPDLRAEED-Q-- | 252 |
| KCNS1 | AAR--CGRLRRRLWLTMENPGYSLPSKLFS>C<VSISVVLASIAAMCIHSLPEYQARE-AA-- | 251 |
| KCNS2 | GQP--LGNFRRQLWLALDNPGYSVLSRVFS>I<LSILVVMGSIITMCLNSLPDFQIPD-SQ-- | 218 |
| KCNS3 | TLR--FGQLRKKIWIRMENPAYCLSAKLIA>I<SSLSVVLASIVAMCVHSMSEFQNED-GE-- | 216 |
| KCNV1 | QGP--CPTVRQKLWNILEKPGSSTAARIFG>V<ISIIFVVVSIINMALMSAEL---------- | 234 |
| KCNV2 | DMRF-YGPQRRRLWNLMEKPFSSVAAKAIG>V<ASSTFVLVSVVALALNTVEEMQQHS-GQ-- | 291 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F127L | c.381C>A | Inherited Arrhythmia | LQTS | rs199472682 | SIFT: tolerated Polyphen: possibly 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 | ||