No paralogue variants have been mapped to residue 125 for KCNQ1.
| KCNQ1 | ----------VQGRVYNFLERPT-GWKCFV>Y<HFAVFLIVLVCLIFSVLSTIEQYA------ | 149 |
| KCNQ2 | ----------LQNFLYNVLERPR-G-WAFI>Y<HAYVFLLVFSCLVLSVFSTIKEYE------ | 119 |
| KCNQ3 | ----------IQTLIYDALERPR-G-WALL>Y<HALVFLIVLGCLILAVLTTFKEYE------ | 149 |
| KCNQ4 | ----------LQNWVYNVLERPR-G-WAFV>Y<HVFIFLLVFSCLVLSVLSTIQEHQ------ | 125 |
| KCNQ5 | ----------VQNYLYNVLERPR-G-WAFI>Y<HAFVFLLVFGCLILSVFSTIPEHT------ | 153 |
| KCNA1 | -----P-EKEYQRQVWLLFEYPESSGPARV>I<AIVSVMVILISIVIFCLETLPELKDDK-DF | 198 |
| KCNA10 | -----P-TNDIHRQFWLLFEYPESSSAARA>V<AVVSVLVVVISITIFCLETLPEFREDR-EL | 247 |
| KCNA2 | -----P-ENEFQRQVWLLFEYPESSGPARI>I<AIVSVMVILISIVSFCLETLPIFRDEN-ED | 194 |
| KCNA3 | -----P-RRDFQRQVWLLFEYPESSGPARG>I<AIVSVLVILISIVIFCLETLPEFRDEK-DY | 265 |
| KCNA4 | -----P-ENEFKKQIWLLFEYPESSSPARG>I<AIVSVLVILISIVIFCLETLPEFRDDR-DL | 338 |
| KCNA5 | -----P-RNEFQRQVWLIFEYPESSGSARA>I<AIVSVLVILISIITFCLETLPEFRDER-EL | 281 |
| KCNA6 | -----P-SQPFQRQVWLLFEYPESSGPARG>I<AIVSVLVILISIVIFCLETLPQFRVDG-RG | 205 |
| KCNA7 | -----P-RRAFARQLWLLFEFPESSQAARV>L<AVVSVLVILVSIVVFCLETLPDFRDDR-DG | 174 |
| KCNB1 | -DNTC--CAEKRKKLWDLLEKPNSSVAAKI>L<AIISIMFIVLSTIALSLNTLPELQSLD-EF | 220 |
| KCNB2 | -DNTC--CPDKRKKLWDLLEKPNSSVAAKI>L<AIVSILFIVLSTIALSLNTLPELQETD-EF | 224 |
| KCNC1 | -RPGGF-WRRWQPRIWALFEDPYSSRYARY>V<AFASLFFILVSITTFCLETHERFNPIV-NK | 221 |
| KCNC2 | -KSGR--WRRLQPRMWALFEDPYSSRAARF>I<AFASLFFILVSITTFCLETHEAFNI---VK | 258 |
| KCNC3 | GAGGTW-WRRWQPRVWALFEDPYSSRAARY>V<AFASLFFILISITTFCLETHEGFIHIS-NK | 321 |
| KCNC4 | -GSGG--CRGWQPRMWALFEDPYSSRAARV>V<AFASLFFILVSITTFCLETHEAFNI---DR | 255 |
| KCND1 | -----PAGSSLRQRLWRAFENPHTSTAALV>F<YYVTGFFIAVSVIANVVETIPCRGSAR-RS | 217 |
| KCND2 | -----PTMT-ARQRVWRAFENPHTSTMALV>F<YYVTGFFIAVSVIANVVETVPCGS-SP-GH | 215 |
| KCND3 | -----PSLS-FRQTMWRAFENPHTSTLALV>F<YYVTGFFIAVSVITNVVETVPCGT-VP-G- | 212 |
| KCNF1 | -AEGR--WRRCQKCVWKFLEKPESSCPARV>V<AVLSFLLILVSSVVMCMGTIPELQVLD-AE | 213 |
| KCNG1 | -GEGRL-GR-CMRRLRDMVERPHSGLPGKV>F<ACLSVLFVTVTAVNLSVSTLPSLREEEE-Q | 258 |
| KCNG2 | -PRGRL-QR-GRRRLRDVVDNPHSGLAGKL>F<ACVSVSFVAVTAVGLCLSTMPDIRAEEE-R | 208 |
| KCNG3 | -AEAAP-SRRWLERMRRTFEEPTSSLAAQI>L<ASVSVVFVIVSMVVLCASTLPDWRN-AAAD | 202 |
| KCNG4 | -HSSRW-GL-CMNRLREMVENPQSGLPGKV>F<ACLSILFVATTAVSLCVSTMPDLRAEED-Q | 252 |
| KCNS1 | -GAAR--CGRLRRRLWLTMENPGYSLPSKL>F<SCVSISVVLASIAAMCIHSLPEYQARE-AA | 251 |
| KCNS2 | -DGQP--LGNFRRQLWLALDNPGYSVLSRV>F<SILSILVVMGSIITMCLNSLPDFQIPD-SQ | 218 |
| KCNS3 | -DTLR--FGQLRKKIWIRMENPAYCLSAKL>I<AISSLSVVLASIVAMCVHSMSEFQNED-GE | 216 |
| KCNV1 | -SQGP--CPTVRQKLWNILEKPGSSTAARI>F<GVISIIFVVVSIINMALMSAEL-------- | 234 |
| KCNV2 | -RDMRF-YGPQRRRLWNLMEKPFSSVAAKA>I<GVASSTFVLVSVVALALNTVEEMQQHS-GQ | 291 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Tyr125Asp | c.373T>G | Unknown | SIFT: Polyphen: |