No paralogue variants have been mapped to residue 203 for KCNQ1.
KCNQ1 | VRLWSAGCRSKYVGLWGRLRFARKPISIID>L<IVVVASMVVLCVG----------------S | 217 |
KCNQ2 | VRIWAAGCCCRYRGWRGRLKFARKPFCVID>I<MVLIASIAVLAAG----------------S | 187 |
KCNQ3 | LRIWAAGCCCRYKGWRGRLKFARKPLCMLD>I<FVLIASVPVVAVG----------------N | 217 |
KCNQ4 | VRVWSAGCCCRYRGWQGRFRFARKPFCVID>F<IVFVASVAVIAAG----------------T | 193 |
KCNQ5 | IRIWSAGCCCRYRGWQGRLRFARKPFCVID>T<IVLIASIAVVSAK----------------T | 221 |
KCNA1 | VR---------FFACPSKTDFFKNIMNFID>I<VAIIPYFITLGTEIAEQEG-------N-QK | 281 |
KCNA10 | LR---------FVVCPSKTDFFRNIMNIID>I<ISIIPYFATLITELVQETEP---------S | 330 |
KCNA2 | VR---------FFACPSKAGFFTNIMNIID>I<VAIIPYFITLGTELAEKPE-------DAQQ | 283 |
KCNA3 | VR---------FFACPSKATFSRNIMNLID>I<VAIIPYFITLGTELAERQ----------GN | 353 |
KCNA4 | VR---------CFACPSQALFFKNIMNIID>I<VSILPYFITLGTDLAQQQGG------GNGQ | 433 |
KCNA5 | VR---------FFACPSKAGFSRNIMNIID>V<VAIFPYFITLGTELAEQQ---PGGGGGGQN | 389 |
KCNA6 | VR---------FSACPSKPAFFRNIMNIID>L<VAIFPYFITLGTELVQQQEQQPASGGGGQN | 331 |
KCNA7 | VR---------LLVCPSKAIFFKNVMNLID>F<VAILPYFVALGTELARQR----------GV | 267 |
KCNB1 | LR---------FLSSPKKWKFFKGPLNAID>L<LAILPYYVTIFLTES---N--------KSV | 286 |
KCNB2 | LR---------FLSSPNKWKFFKGPLNVID>L<LAILPYYVTIFLTES---N--------KSV | 290 |
KCNC1 | MR---------VIFCPNKVEFIKNSLNIID>F<VAILPFYLEVGLSG-------------LSS | 300 |
KCNC2 | VR---------IVFSPNKLEFIKNLLNIID>F<VAILPFYLEVGLSG-------------LSS | 337 |
KCNC3 | MR---------ITFCPDKVEFLKSSLNIID>C<VAILPFYLEVGLSG-------------LSS | 403 |
KCNC4 | VR---------IVCCPDTLDFVKNLLNIID>F<VAILPFYLEVGLSG-------------LSS | 336 |
KCND1 | LR---------LFAAPSRCRFLRSVMSLID>V<VAILPYYIGLLVP----------------- | 282 |
KCND2 | LR---------LAAAPSRYRFVRSVMSIID>V<VAILPYYIGLVMT----------------- | 280 |
KCND3 | LR---------LFAAPSRYRFIRSVMSIID>V<VAIMPYYIGLVMT----------------- | 277 |
KCNF1 | LR---------LFSSPNKLHFALSFMNIVD>V<LAILPFYVSLTLTHL-----------GARM | 279 |
KCNG1 | LR---------LIQAPSKFAFLRSPLTLID>L<VAILPYYITLLVDGAAAGRR----KPGAGN | 332 |
KCNG2 | LR---------SLQAESKCAFLRAPLNIID>I<LALLPFYVSLLLGL-----A----AGPGGT | 277 |
KCNG3 | VR---------FIVSKNKCEFVKRPLNIID>L<LAITPYYISVLMTV-----------FTGEN | 278 |
KCNG4 | LR---------FVQAQDKCQFFQGPLNIID>I<LAISPYYVSLAVSEEPPEDG----ERPSGS | 326 |
KCNS1 | SR---------LLLAPSTRNFFCHPLNLID>I<VSVLPFYLTLLAGVALG-D--------QGG | 331 |
KCNS2 | AR---------FAVAPDFLKFFKNALNLID>L<MSIVPFYITLVVNLV---V--------EST | 284 |
KCNS3 | VR---------LAAAPCQKKFWKNPLNIID>F<VSIIPFYATLAVDTK---E--------EES | 279 |
KCNV1 | LR---------FLCVRDRCRFLRKVPNIID>L<LAILPFYITLLVESLSG-S--------QTT | 301 |
KCNV2 | LR---------LASTPDLRRFARSALNLVD>L<VAILPLYLQLLLECFTGEGH----QRGQTV | 366 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L203P | c.608T>C | Inherited Arrhythmia | LQTS | rs199472823 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient. Can J Cardiol. 2011 27(2):263.e5-12. 21459285 |