No paralogue variants have been mapped to residue 169 for KCNQ1.
| KCNQ1 | ---------ALATGT-LF-WMEIVLVVFFG>T<EYVVRLWSAGCRSKYVGLWGRLRFARKPIS | 199 |
| KCNQ2 | ---------KSSEGA-LY-ILEIVTIVVFG>V<EYFVRIWAAGCCCRYRGWRGRLKFARKPFC | 169 |
| KCNQ3 | ---------TVSGDW-LL-LLETFAIFIFG>A<EFALRIWAAGCCCRYKGWRGRLKFARKPLC | 199 |
| KCNQ4 | ---------ELANEC-LL-ILEFVMIVVFG>L<EYIVRVWSAGCCCRYRGWQGRFRFARKPFC | 175 |
| KCNQ5 | ---------KLASSC-LL-ILEFVMIVVFG>L<EFIIRIWSAGCCCRYRGWQGRLRFARKPFC | 203 |
| KCNA1 | -NTTVIYNSNIFTDP-FF-IVETLCIIWFS>F<ELVVR---------FFACPSKTDFFKNIMN | 255 |
| KCNA10 | NMSKTVLSQTMFTDP-FF-MVESTCIVWFT>F<ELVLR---------FVVCPSKTDFFRNIMN | 305 |
| KCNA2 | NSTIGYQQSTSFTDP-FF-IVETLCIIWFS>F<EFLVR---------FFACPSKAGFFTNIMN | 256 |
| KCNA3 | STSGSRAGASSFSDP-FF-VVETLCIIWFS>F<ELLVR---------FFACPSKATFSRNIMN | 329 |
| KCNA4 | APHLENSGHTIFNDP-FF-IVETVCIVWFS>F<EFVVR---------CFACPSQALFFKNIMN | 405 |
| KCNA5 | GPTVAPLLPRTLADP-FF-IVETTCVIWFT>F<ELLVR---------FFACPSKAGFSRNIMN | 358 |
| KCNA6 | SSSLSTLGGSFFTDP-FF-LVETLCIVWFT>F<ELLVR---------FSACPSKPAFFRNIMN | 297 |
| KCNA7 | SQMPGNPPRLPFNDP-FF-VVETLCICWFS>F<ELLVR---------LLVCPSKAIFFKNVMN | 243 |
| KCNB1 | ----------STDNPQLA-HVEAVCIAWFT>M<EYLLR---------FLSSPKKWKFFKGPLN | 263 |
| KCNB2 | ----------LNDNRQLA-HVEAVCIAWFT>M<EYLLR---------FLSSPNKWKFFKGPLN | 267 |
| KCNC1 | NGTQVRYYREAETEA-FLTYIEGVCVVWFT>F<EFLMR---------VIFCPNKVEFIKNSLN | 279 |
| KCNC2 | NGTSVVLQYEIETDP-ALTYVEGVCVVWFT>F<EFLVR---------IVFSPNKLEFIKNLLN | 316 |
| KCNC3 | APPENITNVEVETEP-FLTYVEGVCVVWFT>F<EFLMR---------ITFCPDKVEFLKSSLN | 382 |
| KCNC4 | NITSVHFRREVETEP-ILTYIEGVCVLWFT>L<EFLVR---------IVCCPDTLDFVKNLLN | 315 |
| KCND1 | ----EQPCGERFPQA-FF-CMDTACVLIFT>G<EYLLR---------LFAAPSRCRFLRSVMS | 265 |
| KCND2 | ----ELPCGERYAVA-FF-CLDTACVMIFT>V<EYLLR---------LAAAPSRYRFVRSVMS | 263 |
| KCND3 | ----ELPCGERYSVA-FF-CLDTACVMIFT>V<EYLLR---------LFAAPSRYRFIRSVMS | 260 |
| KCNF1 | ----------RVEHPTLE-NVETACIGWFT>L<EYLLR---------LFSSPNKLHFALSFMN | 256 |
| KCNG1 | ---------SQMCHN-VF-IVESVCVGWFS>L<EFLLR---------LIQAPSKFAFLRSPLT | 302 |
| KCNG2 | ---------SPKCRS-LF-VLETVCVAWFS>F<EFLLR---------SLQAESKCAFLRAPLN | 252 |
| KCNG3 | -DDRSRYSAGPGREP-SG-IIEAICIGWFT>A<ECIVR---------FIVSKNKCEFVKRPLN | 255 |
| KCNG4 | ---------SRKCYY-IF-IVETICVAWFS>L<EFCLR---------FVQAQDKCQFFQGPLN | 296 |
| KCNS1 | AVAAGRSPEGVRDDPVLR-RLEYFCIAWFS>F<EVSSR---------LLLAPSTRNFFCHPLN | 306 |
| KCNS2 | ----------PGEDPRFE-IVEHFGIAWFT>F<ELVAR---------FAVAPDFLKFFKNALN | 261 |
| KCNS3 | -----------VDDPVLE-GVEIACIAWFT>G<ELAVR---------LAAAPCQKKFWKNPLN | 256 |
| KCNV1 | ----------WLDLQLLE-ILEYVCISWFT>G<EFVLR---------FLCVRDRCRFLRKVPN | 276 |
| KCNV2 | ---------GPDLRPILE-HVEMLCMGFFT>L<EYLLR---------LASTPDLRRFARSALN | 336 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T169R | c.506C>G | Inherited Arrhythmia | LQTS | rs199472693 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||
| Inherited Arrhythmia | LQTS | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
| p.T169M | c.506C>T | Putative Benign | SIFT: Polyphen: | ||