No paralogue variants have been mapped to residue 173 for KCNQ1.
| KCNQ1 | -----ALATGT-LF-WMEIVLVVFFGTEYV>V<RLWSAGCRSKYVGLWGRLRFARKPISIIDL | 203 |
| KCNQ2 | -----KSSEGA-LY-ILEIVTIVVFGVEYF>V<RIWAAGCCCRYRGWRGRLKFARKPFCVIDI | 173 |
| KCNQ3 | -----TVSGDW-LL-LLETFAIFIFGAEFA>L<RIWAAGCCCRYKGWRGRLKFARKPLCMLDI | 203 |
| KCNQ4 | -----ELANEC-LL-ILEFVMIVVFGLEYI>V<RVWSAGCCCRYRGWQGRFRFARKPFCVIDF | 179 |
| KCNQ5 | -----KLASSC-LL-ILEFVMIVVFGLEFI>I<RIWSAGCCCRYRGWQGRLRFARKPFCVIDT | 207 |
| KCNA1 | VIYNSNIFTDP-FF-IVETLCIIWFSFELV>V<R---------FFACPSKTDFFKNIMNFIDI | 259 |
| KCNA10 | TVLSQTMFTDP-FF-MVESTCIVWFTFELV>L<R---------FVVCPSKTDFFRNIMNIIDI | 309 |
| KCNA2 | GYQQSTSFTDP-FF-IVETLCIIWFSFEFL>V<R---------FFACPSKAGFFTNIMNIIDI | 260 |
| KCNA3 | SRAGASSFSDP-FF-VVETLCIIWFSFELL>V<R---------FFACPSKATFSRNIMNLIDI | 333 |
| KCNA4 | ENSGHTIFNDP-FF-IVETVCIVWFSFEFV>V<R---------CFACPSQALFFKNIMNIIDI | 409 |
| KCNA5 | APLLPRTLADP-FF-IVETTCVIWFTFELL>V<R---------FFACPSKAGFSRNIMNIIDV | 362 |
| KCNA6 | STLGGSFFTDP-FF-LVETLCIVWFTFELL>V<R---------FSACPSKPAFFRNIMNIIDL | 301 |
| KCNA7 | GNPPRLPFNDP-FF-VVETLCICWFSFELL>V<R---------LLVCPSKAIFFKNVMNLIDF | 247 |
| KCNB1 | ------STDNPQLA-HVEAVCIAWFTMEYL>L<R---------FLSSPKKWKFFKGPLNAIDL | 267 |
| KCNB2 | ------LNDNRQLA-HVEAVCIAWFTMEYL>L<R---------FLSSPNKWKFFKGPLNVIDL | 271 |
| KCNC1 | VRYYREAETEA-FLTYIEGVCVVWFTFEFL>M<R---------VIFCPNKVEFIKNSLNIIDF | 283 |
| KCNC2 | VVLQYEIETDP-ALTYVEGVCVVWFTFEFL>V<R---------IVFSPNKLEFIKNLLNIIDF | 320 |
| KCNC3 | NITNVEVETEP-FLTYVEGVCVVWFTFEFL>M<R---------ITFCPDKVEFLKSSLNIIDC | 386 |
| KCNC4 | VHFRREVETEP-ILTYIEGVCVLWFTLEFL>V<R---------IVCCPDTLDFVKNLLNIIDF | 319 |
| KCND1 | EQPCGERFPQA-FF-CMDTACVLIFTGEYL>L<R---------LFAAPSRCRFLRSVMSLIDV | 269 |
| KCND2 | ELPCGERYAVA-FF-CLDTACVMIFTVEYL>L<R---------LAAAPSRYRFVRSVMSIIDV | 267 |
| KCND3 | ELPCGERYSVA-FF-CLDTACVMIFTVEYL>L<R---------LFAAPSRYRFIRSVMSIIDV | 264 |
| KCNF1 | ------RVEHPTLE-NVETACIGWFTLEYL>L<R---------LFSSPNKLHFALSFMNIVDV | 260 |
| KCNG1 | -----SQMCHN-VF-IVESVCVGWFSLEFL>L<R---------LIQAPSKFAFLRSPLTLIDL | 306 |
| KCNG2 | -----SPKCRS-LF-VLETVCVAWFSFEFL>L<R---------SLQAESKCAFLRAPLNIIDI | 256 |
| KCNG3 | SRYSAGPGREP-SG-IIEAICIGWFTAECI>V<R---------FIVSKNKCEFVKRPLNIIDL | 259 |
| KCNG4 | -----SRKCYY-IF-IVETICVAWFSLEFC>L<R---------FVQAQDKCQFFQGPLNIIDI | 300 |
| KCNS1 | GRSPEGVRDDPVLR-RLEYFCIAWFSFEVS>S<R---------LLLAPSTRNFFCHPLNLIDI | 310 |
| KCNS2 | ------PGEDPRFE-IVEHFGIAWFTFELV>A<R---------FAVAPDFLKFFKNALNLIDL | 265 |
| KCNS3 | -------VDDPVLE-GVEIACIAWFTGELA>V<R---------LAAAPCQKKFWKNPLNIIDF | 260 |
| KCNV1 | ------WLDLQLLE-ILEYVCISWFTGEFV>L<R---------FLCVRDRCRFLRKVPNIIDL | 280 |
| KCNV2 | -----GPDLRPILE-HVEMLCMGFFTLEYL>L<R---------LASTPDLRRFARSALNLVDL | 340 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V173D | c.518T>A | Inherited Arrhythmia | LQTS | rs199472695 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||