No paralogue variants have been mapped to residue 165 for KCNQ1.
KCNQ1 | -------------ALATGT-LF-WMEIVLV>V<FFGTEYVVRLWSAGCRSKYVGLWGRLRFAR | 195 |
KCNQ2 | -------------KSSEGA-LY-ILEIVTI>V<VFGVEYFVRIWAAGCCCRYRGWRGRLKFAR | 165 |
KCNQ3 | -------------TVSGDW-LL-LLETFAI>F<IFGAEFALRIWAAGCCCRYKGWRGRLKFAR | 195 |
KCNQ4 | -------------ELANEC-LL-ILEFVMI>V<VFGLEYIVRVWSAGCCCRYRGWQGRFRFAR | 171 |
KCNQ5 | -------------KLASSC-LL-ILEFVMI>V<VFGLEFIIRIWSAGCCCRYRGWQGRLRFAR | 199 |
KCNA1 | -----NTTVIYNSNIFTDP-FF-IVETLCI>I<WFSFELVVR---------FFACPSKTDFFK | 251 |
KCNA10 | ----NMSKTVLSQTMFTDP-FF-MVESTCI>V<WFTFELVLR---------FVVCPSKTDFFR | 301 |
KCNA2 | ----NSTIGYQQSTSFTDP-FF-IVETLCI>I<WFSFEFLVR---------FFACPSKAGFFT | 252 |
KCNA3 | ----STSGSRAGASSFSDP-FF-VVETLCI>I<WFSFELLVR---------FFACPSKATFSR | 325 |
KCNA4 | ----APHLENSGHTIFNDP-FF-IVETVCI>V<WFSFEFVVR---------CFACPSQALFFK | 401 |
KCNA5 | ----GPTVAPLLPRTLADP-FF-IVETTCV>I<WFTFELLVR---------FFACPSKAGFSR | 354 |
KCNA6 | GTGGSSSLSTLGGSFFTDP-FF-LVETLCI>V<WFTFELLVR---------FSACPSKPAFFR | 293 |
KCNA7 | ----SQMPGNPPRLPFNDP-FF-VVETLCI>C<WFSFELLVR---------LLVCPSKAIFFK | 239 |
KCNB1 | --------------STDNPQLA-HVEAVCI>A<WFTMEYLLR---------FLSSPKKWKFFK | 259 |
KCNB2 | --------------LNDNRQLA-HVEAVCI>A<WFTMEYLLR---------FLSSPNKWKFFK | 263 |
KCNC1 | ----NGTQVRYYREAETEA-FLTYIEGVCV>V<WFTFEFLMR---------VIFCPNKVEFIK | 275 |
KCNC2 | ----NGTSVVLQYEIETDP-ALTYVEGVCV>V<WFTFEFLVR---------IVFSPNKLEFIK | 312 |
KCNC3 | ----APPENITNVEVETEP-FLTYVEGVCV>V<WFTFEFLMR---------ITFCPDKVEFLK | 378 |
KCNC4 | ----NITSVHFRREVETEP-ILTYIEGVCV>L<WFTLEFLVR---------IVCCPDTLDFVK | 311 |
KCND1 | --------EQPCGERFPQA-FF-CMDTACV>L<IFTGEYLLR---------LFAAPSRCRFLR | 261 |
KCND2 | --------ELPCGERYAVA-FF-CLDTACV>M<IFTVEYLLR---------LAAAPSRYRFVR | 259 |
KCND3 | --------ELPCGERYSVA-FF-CLDTACV>M<IFTVEYLLR---------LFAAPSRYRFIR | 256 |
KCNF1 | --------------RVEHPTLE-NVETACI>G<WFTLEYLLR---------LFSSPNKLHFAL | 252 |
KCNG1 | -------------SQMCHN-VF-IVESVCV>G<WFSLEFLLR---------LIQAPSKFAFLR | 298 |
KCNG2 | -------------SPKCRS-LF-VLETVCV>A<WFSFEFLLR---------SLQAESKCAFLR | 248 |
KCNG3 | -----DDRSRYSAGPGREP-SG-IIEAICI>G<WFTAECIVR---------FIVSKNKCEFVK | 251 |
KCNG4 | -------------SRKCYY-IF-IVETICV>A<WFSLEFCLR---------FVQAQDKCQFFQ | 292 |
KCNS1 | ----AVAAGRSPEGVRDDPVLR-RLEYFCI>A<WFSFEVSSR---------LLLAPSTRNFFC | 302 |
KCNS2 | --------------PGEDPRFE-IVEHFGI>A<WFTFELVAR---------FAVAPDFLKFFK | 257 |
KCNS3 | ---------------VDDPVLE-GVEIACI>A<WFTGELAVR---------LAAAPCQKKFWK | 252 |
KCNV1 | --------------WLDLQLLE-ILEYVCI>S<WFTGEFVLR---------FLCVRDRCRFLR | 272 |
KCNV2 | -------------GPDLRPILE-HVEMLCM>G<FFTLEYLLR---------LASTPDLRRFAR | 332 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V165M | c.493G>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 |