No paralogue variants have been mapped to residue 129 for KCNQ1.
| KCNQ1 | ------VQGRVYNFLERPT-GWKCFVYHFA>V<FLIVLVCLIFSVLSTIEQYA---------- | 149 |
| KCNQ2 | ------LQNFLYNVLERPR-G-WAFIYHAY>V<FLLVFSCLVLSVFSTIKEYE---------- | 119 |
| KCNQ3 | ------IQTLIYDALERPR-G-WALLYHAL>V<FLIVLGCLILAVLTTFKEYE---------- | 149 |
| KCNQ4 | ------LQNWVYNVLERPR-G-WAFVYHVF>I<FLLVFSCLVLSVLSTIQEHQ---------- | 125 |
| KCNQ5 | ------VQNYLYNVLERPR-G-WAFIYHAF>V<FLLVFGCLILSVFSTIPEHT---------- | 153 |
| KCNA1 | -P-EKEYQRQVWLLFEYPESSGPARVIAIV>S<VMVILISIVIFCLETLPELKDDK-DF---- | 198 |
| KCNA10 | -P-TNDIHRQFWLLFEYPESSSAARAVAVV>S<VLVVVISITIFCLETLPEFREDR-EL---- | 247 |
| KCNA2 | -P-ENEFQRQVWLLFEYPESSGPARIIAIV>S<VMVILISIVSFCLETLPIFRDEN-ED---- | 194 |
| KCNA3 | -P-RRDFQRQVWLLFEYPESSGPARGIAIV>S<VLVILISIVIFCLETLPEFRDEK-DY---- | 265 |
| KCNA4 | -P-ENEFKKQIWLLFEYPESSSPARGIAIV>S<VLVILISIVIFCLETLPEFRDDR-DL---- | 338 |
| KCNA5 | -P-RNEFQRQVWLIFEYPESSGSARAIAIV>S<VLVILISIITFCLETLPEFRDER-ELLRHP | 285 |
| KCNA6 | -P-SQPFQRQVWLLFEYPESSGPARGIAIV>S<VLVILISIVIFCLETLPQFRVDG-RGGNNG | 209 |
| KCNA7 | -P-RRAFARQLWLLFEFPESSQAARVLAVV>S<VLVILVSIVVFCLETLPDFRDDR-DGTGL- | 177 |
| KCNB1 | C--CAEKRKKLWDLLEKPNSSVAAKILAII>S<IMFIVLSTIALSLNTLPELQSLD-EF---- | 220 |
| KCNB2 | C--CPDKRKKLWDLLEKPNSSVAAKILAIV>S<ILFIVLSTIALSLNTLPELQETD-EF---- | 224 |
| KCNC1 | GF-WRRWQPRIWALFEDPYSSRYARYVAFA>S<LFFILVSITTFCLETHERFNPIV-NK---- | 221 |
| KCNC2 | R--WRRLQPRMWALFEDPYSSRAARFIAFA>S<LFFILVSITTFCLETHEAFNI---VK---- | 258 |
| KCNC3 | TW-WRRWQPRVWALFEDPYSSRAARYVAFA>S<LFFILISITTFCLETHEGFIHIS-NK---- | 321 |
| KCNC4 | G--CRGWQPRMWALFEDPYSSRAARVVAFA>S<LFFILVSITTFCLETHEAFNI---DR-NV- | 257 |
| KCND1 | -PAGSSLRQRLWRAFENPHTSTAALVFYYV>T<GFFIAVSVIANVVETIPCRGSAR-RS---- | 217 |
| KCND2 | -PTMT-ARQRVWRAFENPHTSTMALVFYYV>T<GFFIAVSVIANVVETVPCGS-SP-GH---- | 215 |
| KCND3 | -PSLS-FRQTMWRAFENPHTSTLALVFYYV>T<GFFIAVSVITNVVETVPCGT-VP-G----- | 212 |
| KCNF1 | R--WRRCQKCVWKFLEKPESSCPARVVAVL>S<FLLILVSSVVMCMGTIPELQVLD-AE---- | 213 |
| KCNG1 | RL-GR-CMRRLRDMVERPHSGLPGKVFACL>S<VLFVTVTAVNLSVSTLPSLREEEE-Q---- | 258 |
| KCNG2 | RL-QR-GRRRLRDVVDNPHSGLAGKLFACV>S<VSFVAVTAVGLCLSTMPDIRAEEE-R---- | 208 |
| KCNG3 | AP-SRRWLERMRRTFEEPTSSLAAQILASV>S<VVFVIVSMVVLCASTLPDWRN-AAAD---- | 202 |
| KCNG4 | RW-GL-CMNRLREMVENPQSGLPGKVFACL>S<ILFVATTAVSLCVSTMPDLRAEED-Q---- | 252 |
| KCNS1 | R--CGRLRRRLWLTMENPGYSLPSKLFSCV>S<ISVVLASIAAMCIHSLPEYQARE-AA---- | 251 |
| KCNS2 | P--LGNFRRQLWLALDNPGYSVLSRVFSIL>S<ILVVMGSIITMCLNSLPDFQIPD-SQ---- | 218 |
| KCNS3 | R--FGQLRKKIWIRMENPAYCLSAKLIAIS>S<LSVVLASIVAMCVHSMSEFQNED-GE---- | 216 |
| KCNV1 | P--CPTVRQKLWNILEKPGSSTAARIFGVI>S<IIFVVVSIINMALMSAEL------------ | 234 |
| KCNV2 | RF-YGPQRRRLWNLMEKPFSSVAAKAIGVA>S<STFVLVSVVALALNTVEEMQQHS-GQ---- | 291 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V129I | c.385G>A | Putative Benign | rs199472683 | SIFT: tolerated Polyphen: probably damaging | |
| Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||