No paralogue variants have been mapped to residue 115 for KCNQ1.
| KCNQ1 | ---------------------VQGRVYNFL>E<RPT-GWKCFVYHFAVFLIVLVCLIFSVLST | 144 |
| KCNQ2 | ---------------------LQNFLYNVL>E<RPR-G-WAFIYHAYVFLLVFSCLVLSVFST | 114 |
| KCNQ3 | ---------------------IQTLIYDAL>E<RPR-G-WALLYHALVFLIVLGCLILAVLTT | 144 |
| KCNQ4 | ---------------------LQNWVYNVL>E<RPR-G-WAFVYHVFIFLLVFSCLVLSVLST | 120 |
| KCNQ5 | ---------------------VQNYLYNVL>E<RPR-G-WAFIYHAFVFLLVFGCLILSVFST | 148 |
| KCNA1 | ----------------P-EKEYQRQVWLLF>E<YPESSGPARVIAIVSVMVILISIVIFCLET | 188 |
| KCNA10 | ----------------P-TNDIHRQFWLLF>E<YPESSSAARAVAVVSVLVVVISITIFCLET | 237 |
| KCNA2 | ----------------P-ENEFQRQVWLLF>E<YPESSGPARIIAIVSVMVILISIVSFCLET | 184 |
| KCNA3 | ----------------P-RRDFQRQVWLLF>E<YPESSGPARGIAIVSVLVILISIVIFCLET | 255 |
| KCNA4 | ----------------P-ENEFKKQIWLLF>E<YPESSSPARGIAIVSVLVILISIVIFCLET | 328 |
| KCNA5 | ----------------P-RNEFQRQVWLIF>E<YPESSGSARAIAIVSVLVILISIITFCLET | 271 |
| KCNA6 | ----------------P-SQPFQRQVWLLF>E<YPESSGPARGIAIVSVLVILISIVIFCLET | 195 |
| KCNA7 | ----------------P-RRAFARQLWLLF>E<FPESSQAARVLAVVSVLVILVSIVVFCLET | 164 |
| KCNB1 | ----F-------DNTC--CAEKRKKLWDLL>E<KPNSSVAAKILAIISIMFIVLSTIALSLNT | 210 |
| KCNB2 | ----F-------DNTC--CPDKRKKLWDLL>E<KPNSSVAAKILAIVSILFIVLSTIALSLNT | 214 |
| KCNC1 | --PDG-------RPGGF-WRRWQPRIWALF>E<DPYSSRYARYVAFASLFFILVSITTFCLET | 211 |
| KCNC2 | GGPDG-------KSGR--WRRLQPRMWALF>E<DPYSSRAARFIAFASLFFILVSITTFCLET | 250 |
| KCNC3 | GGAGGPPGGAGGAGGTW-WRRWQPRVWALF>E<DPYSSRAARYVAFASLFFILISITTFCLET | 311 |
| KCNC4 | AGHGA-------GSGG--CRGWQPRMWALF>E<DPYSSRAARVVAFASLFFILVSITTFCLET | 247 |
| KCND1 | ----------------PAGSSLRQRLWRAF>E<NPHTSTAALVFYYVTGFFIAVSVIANVVET | 207 |
| KCND2 | ----------------PTMT-ARQRVWRAF>E<NPHTSTMALVFYYVTGFFIAVSVIANVVET | 206 |
| KCND3 | ----------------PSLS-FRQTMWRAF>E<NPHTSTLALVFYYVTGFFIAVSVITNVVET | 204 |
| KCNF1 | ----A-------AEGR--WRRCQKCVWKFL>E<KPESSCPARVVAVLSFLLILVSSVVMCMGT | 203 |
| KCNG1 | ----E-------GEGRL-GR-CMRRLRDMV>E<RPHSGLPGKVFACLSVLFVTVTAVNLSVST | 248 |
| KCNG2 | ----G-------PRGRL-QR-GRRRLRDVV>D<NPHSGLAGKLFACVSVSFVAVTAVGLCLST | 198 |
| KCNG3 | ----G-------AEAAP-SRRWLERMRRTF>E<EPTSSLAAQILASVSVVFVIVSMVVLCAST | 192 |
| KCNG4 | ----S-------HSSRW-GL-CMNRLREMV>E<NPQSGLPGKVFACLSILFVATTAVSLCVST | 242 |
| KCNS1 | ----Y-------GAAR--CGRLRRRLWLTM>E<NPGYSLPSKLFSCVSISVVLASIAAMCIHS | 241 |
| KCNS2 | ----F-------DGQP--LGNFRRQLWLAL>D<NPGYSVLSRVFSILSILVVMGSIITMCLNS | 208 |
| KCNS3 | ----F-------DTLR--FGQLRKKIWIRM>E<NPAYCLSAKLIAISSLSVVLASIVAMCVHS | 206 |
| KCNV1 | ----F-------SQGP--CPTVRQKLWNIL>E<KPGSSTAARIFGVISIIFVVVSIINMALMS | 231 |
| KCNV2 | ----F-------RDMRF-YGPQRRRLWNLM>E<KPFSSVAAKAIGVASSTFVLVSVVALALNT | 281 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E115G | c.344A>G | Inherited Arrhythmia | LQTS | rs199472679 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| p.Glu115Lys | c.343G>A | Unknown | SIFT: Polyphen: | ||