No paralogue variants have been mapped to residue 114 for KCNQ1.
| KCNQ1 | ----------------------VQGRVYNF>L<ERPT-GWKCFVYHFAVFLIVLVCLIFSVLS | 143 |
| KCNQ2 | ----------------------LQNFLYNV>L<ERPR-G-WAFIYHAYVFLLVFSCLVLSVFS | 113 |
| KCNQ3 | ----------------------IQTLIYDA>L<ERPR-G-WALLYHALVFLIVLGCLILAVLT | 143 |
| KCNQ4 | ----------------------LQNWVYNV>L<ERPR-G-WAFVYHVFIFLLVFSCLVLSVLS | 119 |
| KCNQ5 | ----------------------VQNYLYNV>L<ERPR-G-WAFIYHAFVFLLVFGCLILSVFS | 147 |
| KCNA1 | -----------------P-EKEYQRQVWLL>F<EYPESSGPARVIAIVSVMVILISIVIFCLE | 187 |
| KCNA10 | -----------------P-TNDIHRQFWLL>F<EYPESSSAARAVAVVSVLVVVISITIFCLE | 236 |
| KCNA2 | -----------------P-ENEFQRQVWLL>F<EYPESSGPARIIAIVSVMVILISIVSFCLE | 183 |
| KCNA3 | -----------------P-RRDFQRQVWLL>F<EYPESSGPARGIAIVSVLVILISIVIFCLE | 254 |
| KCNA4 | -----------------P-ENEFKKQIWLL>F<EYPESSSPARGIAIVSVLVILISIVIFCLE | 327 |
| KCNA5 | -----------------P-RNEFQRQVWLI>F<EYPESSGSARAIAIVSVLVILISIITFCLE | 270 |
| KCNA6 | -----------------P-SQPFQRQVWLL>F<EYPESSGPARGIAIVSVLVILISIVIFCLE | 194 |
| KCNA7 | -----------------P-RRAFARQLWLL>F<EFPESSQAARVLAVVSVLVILVSIVVFCLE | 163 |
| KCNB1 | -----F-------DNTC--CAEKRKKLWDL>L<EKPNSSVAAKILAIISIMFIVLSTIALSLN | 209 |
| KCNB2 | -----F-------DNTC--CPDKRKKLWDL>L<EKPNSSVAAKILAIVSILFIVLSTIALSLN | 213 |
| KCNC1 | ---PDG-------RPGGF-WRRWQPRIWAL>F<EDPYSSRYARYVAFASLFFILVSITTFCLE | 210 |
| KCNC2 | LGGPDG-------KSGR--WRRLQPRMWAL>F<EDPYSSRAARFIAFASLFFILVSITTFCLE | 249 |
| KCNC3 | -GGAGGPPGGAGGAGGTW-WRRWQPRVWAL>F<EDPYSSRAARYVAFASLFFILISITTFCLE | 310 |
| KCNC4 | -AGHGA-------GSGG--CRGWQPRMWAL>F<EDPYSSRAARVVAFASLFFILVSITTFCLE | 246 |
| KCND1 | -----------------PAGSSLRQRLWRA>F<ENPHTSTAALVFYYVTGFFIAVSVIANVVE | 206 |
| KCND2 | -----------------PTMT-ARQRVWRA>F<ENPHTSTMALVFYYVTGFFIAVSVIANVVE | 205 |
| KCND3 | -----------------PSLS-FRQTMWRA>F<ENPHTSTLALVFYYVTGFFIAVSVITNVVE | 203 |
| KCNF1 | -----A-------AEGR--WRRCQKCVWKF>L<EKPESSCPARVVAVLSFLLILVSSVVMCMG | 202 |
| KCNG1 | -----E-------GEGRL-GR-CMRRLRDM>V<ERPHSGLPGKVFACLSVLFVTVTAVNLSVS | 247 |
| KCNG2 | -----G-------PRGRL-QR-GRRRLRDV>V<DNPHSGLAGKLFACVSVSFVAVTAVGLCLS | 197 |
| KCNG3 | -----G-------AEAAP-SRRWLERMRRT>F<EEPTSSLAAQILASVSVVFVIVSMVVLCAS | 191 |
| KCNG4 | -----S-------HSSRW-GL-CMNRLREM>V<ENPQSGLPGKVFACLSILFVATTAVSLCVS | 241 |
| KCNS1 | -----Y-------GAAR--CGRLRRRLWLT>M<ENPGYSLPSKLFSCVSISVVLASIAAMCIH | 240 |
| KCNS2 | -----F-------DGQP--LGNFRRQLWLA>L<DNPGYSVLSRVFSILSILVVMGSIITMCLN | 207 |
| KCNS3 | -----F-------DTLR--FGQLRKKIWIR>M<ENPAYCLSAKLIAISSLSVVLASIVAMCVH | 205 |
| KCNV1 | -----F-------SQGP--CPTVRQKLWNI>L<EKPGSSTAARIFGVISIIFVVVSIINMALM | 230 |
| KCNV2 | -----F-------RDMRF-YGPQRRRLWNL>M<EKPFSSVAAKAIGVASSTFVLVSVVALALN | 280 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L114P | c.341T>C | Inherited Arrhythmia | LQTS | rs199473448 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | ||
| Inherited Arrhythmia | LQTS | The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome. Circ Res. 2006 99(10):1076-83. 17053194 | |||
| Inherited Arrhythmia | LQTS | LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1. J Biol Chem. 2009 284(8):5250-6. 19114714 | |||