No paralogue variants have been mapped to residue 162 for KCNQ1.
| KCNQ1 | ----------------ALATGT-LF-WMEI>V<LVVFFGTEYVVRLWSAGCRSKYVGLWGRLR | 192 |
| KCNQ2 | ----------------KSSEGA-LY-ILEI>V<TIVVFGVEYFVRIWAAGCCCRYRGWRGRLK | 162 |
| KCNQ3 | ----------------TVSGDW-LL-LLET>F<AIFIFGAEFALRIWAAGCCCRYKGWRGRLK | 192 |
| KCNQ4 | ----------------ELANEC-LL-ILEF>V<MIVVFGLEYIVRVWSAGCCCRYRGWQGRFR | 168 |
| KCNQ5 | ----------------KLASSC-LL-ILEF>V<MIVVFGLEFIIRIWSAGCCCRYRGWQGRLR | 196 |
| KCNA1 | -D------NTTVIYNSNIFTDP-FF-IVET>L<CIIWFSFELVVR---------FFACPSKTD | 248 |
| KCNA10 | -L-----NMSKTVLSQTMFTDP-FF-MVES>T<CIVWFTFELVLR---------FVVCPSKTD | 298 |
| KCNA2 | -S-----NSTIGYQQSTSFTDP-FF-IVET>L<CIIWFSFEFLVR---------FFACPSKAG | 249 |
| KCNA3 | -N-----STSGSRAGASSFSDP-FF-VVET>L<CIIWFSFELLVR---------FFACPSKAT | 322 |
| KCNA4 | TS-----APHLENSGHTIFNDP-FF-IVET>V<CIVWFSFEFVVR---------CFACPSQAL | 398 |
| KCNA5 | PS-----GPTVAPLLPRTLADP-FF-IVET>T<CVIWFTFELLVR---------FFACPSKAG | 351 |
| KCNA6 | GEMGTGGSSSLSTLGGSFFTDP-FF-LVET>L<CIVWFTFELLVR---------FSACPSKPA | 290 |
| KCNA7 | GS-----SQMPGNPPRLPFNDP-FF-VVET>L<CICWFSFELLVR---------LLVCPSKAI | 236 |
| KCNB1 | -----------------STDNPQLA-HVEA>V<CIAWFTMEYLLR---------FLSSPKKWK | 256 |
| KCNB2 | -----------------LNDNRQLA-HVEA>V<CIAWFTMEYLLR---------FLSSPNKWK | 260 |
| KCNC1 | -R-----NGTQVRYYREAETEA-FLTYIEG>V<CVVWFTFEFLMR---------VIFCPNKVE | 272 |
| KCNC2 | -I-----NGTSVVLQYEIETDP-ALTYVEG>V<CVVWFTFEFLVR---------IVFSPNKLE | 309 |
| KCNC3 | -G-----APPENITNVEVETEP-FLTYVEG>V<CVVWFTFEFLMR---------ITFCPDKVE | 375 |
| KCNC4 | -G-----NITSVHFRREVETEP-ILTYIEG>V<CVLWFTLEFLVR---------IVCCPDTLD | 308 |
| KCND1 | -----------EQPCGERFPQA-FF-CMDT>A<CVLIFTGEYLLR---------LFAAPSRCR | 258 |
| KCND2 | -----------ELPCGERYAVA-FF-CLDT>A<CVMIFTVEYLLR---------LAAAPSRYR | 256 |
| KCND3 | -----------ELPCGERYSVA-FF-CLDT>A<CVMIFTVEYLLR---------LFAAPSRYR | 253 |
| KCNF1 | -----------------RVEHPTLE-NVET>A<CIGWFTLEYLLR---------LFSSPNKLH | 249 |
| KCNG1 | ----------------SQMCHN-VF-IVES>V<CVGWFSLEFLLR---------LIQAPSKFA | 295 |
| KCNG2 | ----------------SPKCRS-LF-VLET>V<CVAWFSFEFLLR---------SLQAESKCA | 245 |
| KCNG3 | --------DDRSRYSAGPGREP-SG-IIEA>I<CIGWFTAECIVR---------FIVSKNKCE | 248 |
| KCNG4 | ----------------SRKCYY-IF-IVET>I<CVAWFSLEFCLR---------FVQAQDKCQ | 289 |
| KCNS1 | -------AVAAGRSPEGVRDDPVLR-RLEY>F<CIAWFSFEVSSR---------LLLAPSTRN | 299 |
| KCNS2 | -----------------PGEDPRFE-IVEH>F<GIAWFTFELVAR---------FAVAPDFLK | 254 |
| KCNS3 | ------------------VDDPVLE-GVEI>A<CIAWFTGELAVR---------LAAAPCQKK | 249 |
| KCNV1 | -----------------WLDLQLLE-ILEY>V<CISWFTGEFVLR---------FLCVRDRCR | 269 |
| KCNV2 | ----------------GPDLRPILE-HVEM>L<CMGFFTLEYLLR---------LASTPDLRR | 329 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V162M | c.484G>A | Inherited Arrhythmia | LQTS | rs199472692 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||