No paralogue variants have been mapped to residue 170 for KCNQ1.
| KCNQ1 | --------ALATGT-LF-WMEIVLVVFFGT>E<YVVRLWSAGCRSKYVGLWGRLRFARKPISI | 200 |
| KCNQ2 | --------KSSEGA-LY-ILEIVTIVVFGV>E<YFVRIWAAGCCCRYRGWRGRLKFARKPFCV | 170 |
| KCNQ3 | --------TVSGDW-LL-LLETFAIFIFGA>E<FALRIWAAGCCCRYKGWRGRLKFARKPLCM | 200 |
| KCNQ4 | --------ELANEC-LL-ILEFVMIVVFGL>E<YIVRVWSAGCCCRYRGWQGRFRFARKPFCV | 176 |
| KCNQ5 | --------KLASSC-LL-ILEFVMIVVFGL>E<FIIRIWSAGCCCRYRGWQGRLRFARKPFCV | 204 |
| KCNA1 | NTTVIYNSNIFTDP-FF-IVETLCIIWFSF>E<LVVR---------FFACPSKTDFFKNIMNF | 256 |
| KCNA10 | MSKTVLSQTMFTDP-FF-MVESTCIVWFTF>E<LVLR---------FVVCPSKTDFFRNIMNI | 306 |
| KCNA2 | STIGYQQSTSFTDP-FF-IVETLCIIWFSF>E<FLVR---------FFACPSKAGFFTNIMNI | 257 |
| KCNA3 | TSGSRAGASSFSDP-FF-VVETLCIIWFSF>E<LLVR---------FFACPSKATFSRNIMNL | 330 |
| KCNA4 | PHLENSGHTIFNDP-FF-IVETVCIVWFSF>E<FVVR---------CFACPSQALFFKNIMNI | 406 |
| KCNA5 | PTVAPLLPRTLADP-FF-IVETTCVIWFTF>E<LLVR---------FFACPSKAGFSRNIMNI | 359 |
| KCNA6 | SSLSTLGGSFFTDP-FF-LVETLCIVWFTF>E<LLVR---------FSACPSKPAFFRNIMNI | 298 |
| KCNA7 | QMPGNPPRLPFNDP-FF-VVETLCICWFSF>E<LLVR---------LLVCPSKAIFFKNVMNL | 244 |
| KCNB1 | ---------STDNPQLA-HVEAVCIAWFTM>E<YLLR---------FLSSPKKWKFFKGPLNA | 264 |
| KCNB2 | ---------LNDNRQLA-HVEAVCIAWFTM>E<YLLR---------FLSSPNKWKFFKGPLNV | 268 |
| KCNC1 | GTQVRYYREAETEA-FLTYIEGVCVVWFTF>E<FLMR---------VIFCPNKVEFIKNSLNI | 280 |
| KCNC2 | GTSVVLQYEIETDP-ALTYVEGVCVVWFTF>E<FLVR---------IVFSPNKLEFIKNLLNI | 317 |
| KCNC3 | PPENITNVEVETEP-FLTYVEGVCVVWFTF>E<FLMR---------ITFCPDKVEFLKSSLNI | 383 |
| KCNC4 | ITSVHFRREVETEP-ILTYIEGVCVLWFTL>E<FLVR---------IVCCPDTLDFVKNLLNI | 316 |
| KCND1 | ---EQPCGERFPQA-FF-CMDTACVLIFTG>E<YLLR---------LFAAPSRCRFLRSVMSL | 266 |
| KCND2 | ---ELPCGERYAVA-FF-CLDTACVMIFTV>E<YLLR---------LAAAPSRYRFVRSVMSI | 264 |
| KCND3 | ---ELPCGERYSVA-FF-CLDTACVMIFTV>E<YLLR---------LFAAPSRYRFIRSVMSI | 261 |
| KCNF1 | ---------RVEHPTLE-NVETACIGWFTL>E<YLLR---------LFSSPNKLHFALSFMNI | 257 |
| KCNG1 | --------SQMCHN-VF-IVESVCVGWFSL>E<FLLR---------LIQAPSKFAFLRSPLTL | 303 |
| KCNG2 | --------SPKCRS-LF-VLETVCVAWFSF>E<FLLR---------SLQAESKCAFLRAPLNI | 253 |
| KCNG3 | DDRSRYSAGPGREP-SG-IIEAICIGWFTA>E<CIVR---------FIVSKNKCEFVKRPLNI | 256 |
| KCNG4 | --------SRKCYY-IF-IVETICVAWFSL>E<FCLR---------FVQAQDKCQFFQGPLNI | 297 |
| KCNS1 | VAAGRSPEGVRDDPVLR-RLEYFCIAWFSF>E<VSSR---------LLLAPSTRNFFCHPLNL | 307 |
| KCNS2 | ---------PGEDPRFE-IVEHFGIAWFTF>E<LVAR---------FAVAPDFLKFFKNALNL | 262 |
| KCNS3 | ----------VDDPVLE-GVEIACIAWFTG>E<LAVR---------LAAAPCQKKFWKNPLNI | 257 |
| KCNV1 | ---------WLDLQLLE-ILEYVCISWFTG>E<FVLR---------FLCVRDRCRFLRKVPNI | 277 |
| KCNV2 | --------GPDLRPILE-HVEMLCMGFFTL>E<YLLR---------LASTPDLRRFARSALNL | 337 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E170G | c.509A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067 | ||