No paralogue variants have been mapped to residue 209 for KCNQ1.
| KCNQ1 | GCRSKYVGLWGRLRFARKPISIIDLIVVVA>S<MVVLCVG----------------SKGQVFA | 223 |
| KCNQ2 | GCCCRYRGWRGRLKFARKPFCVIDIMVLIA>S<IAVLAAG----------------SQGNVFA | 193 |
| KCNQ3 | GCCCRYKGWRGRLKFARKPLCMLDIFVLIA>S<VPVVAVG----------------NQGNVLA | 223 |
| KCNQ4 | GCCCRYRGWQGRFRFARKPFCVIDFIVFVA>S<VAVIAAG----------------TQGNIFA | 199 |
| KCNQ5 | GCCCRYRGWQGRLRFARKPFCVIDTIVLIA>S<IAVVSAK----------------TQGNIFA | 227 |
| KCNA1 | -----FFACPSKTDFFKNIMNFIDIVAIIP>Y<FITLGTEIAEQEG-------N-QKGEQATS | 287 |
| KCNA10 | -----FVVCPSKTDFFRNIMNIIDIISIIP>Y<FATLITELVQETEP---------SAQQNMS | 336 |
| KCNA2 | -----FFACPSKAGFFTNIMNIIDIVAIIP>Y<FITLGTELAEKPE-------DAQQGQQAMS | 289 |
| KCNA3 | -----FFACPSKATFSRNIMNLIDIVAIIP>Y<FITLGTELAERQ----------GNGQQAMS | 359 |
| KCNA4 | -----CFACPSQALFFKNIMNIIDIVSILP>Y<FITLGTDLAQQQGG------GNGQQQQAMS | 439 |
| KCNA5 | -----FFACPSKAGFSRNIMNIIDVVAIFP>Y<FITLGTELAEQQ---PGGGGGGQNGQQAMS | 395 |
| KCNA6 | -----FSACPSKPAFFRNIMNIIDLVAIFP>Y<FITLGTELVQQQEQQPASGGGGQNGQQAMS | 337 |
| KCNA7 | -----LLVCPSKAIFFKNVMNLIDFVAILP>Y<FVALGTELARQR----------GVGQQAMS | 273 |
| KCNB1 | -----FLSSPKKWKFFKGPLNAIDLLAILP>Y<YVTIFLTES---N--------KSVLQFQNV | 292 |
| KCNB2 | -----FLSSPNKWKFFKGPLNVIDLLAILP>Y<YVTIFLTES---N--------KSVLQFQNV | 296 |
| KCNC1 | -----VIFCPNKVEFIKNSLNIIDFVAILP>F<YLEVGLSG-------------LSSKAAKDV | 306 |
| KCNC2 | -----IVFSPNKLEFIKNLLNIIDFVAILP>F<YLEVGLSG-------------LSSKAAKDV | 343 |
| KCNC3 | -----ITFCPDKVEFLKSSLNIIDCVAILP>F<YLEVGLSG-------------LSSKAAKDV | 409 |
| KCNC4 | -----IVCCPDTLDFVKNLLNIIDFVAILP>F<YLEVGLSG-------------LSSKAARDV | 342 |
| KCND1 | -----LFAAPSRCRFLRSVMSLIDVVAILP>Y<YIGLLVP------------------KNDDV | 287 |
| KCND2 | -----LAAAPSRYRFVRSVMSIIDVVAILP>Y<YIGLVMT------------------DNEDV | 285 |
| KCND3 | -----LFAAPSRYRFIRSVMSIIDVVAIMP>Y<YIGLVMT------------------NNEDV | 282 |
| KCNF1 | -----LFSSPNKLHFALSFMNIVDVLAILP>F<YVSLTLTHL-----------GARMMELTNV | 285 |
| KCNG1 | -----LIQAPSKFAFLRSPLTLIDLVAILP>Y<YITLLVDGAAAGRR----KPGAGNSYLDKV | 338 |
| KCNG2 | -----SLQAESKCAFLRAPLNIIDILALLP>F<YVSLLLGL-----A----AGPGGTKLLERA | 283 |
| KCNG3 | -----FIVSKNKCEFVKRPLNIIDLLAITP>Y<YISVLMTV-----------FTGENSQLQRA | 284 |
| KCNG4 | -----FVQAQDKCQFFQGPLNIIDILAISP>Y<YVSLAVSEEPPEDG----ERPSGSSYLEKV | 332 |
| KCNS1 | -----LLLAPSTRNFFCHPLNLIDIVSVLP>F<YLTLLAGVALG-D--------QGGKEFGHL | 337 |
| KCNS2 | -----FAVAPDFLKFFKNALNLIDLMSIVP>F<YITLVVNLV---V--------ESTPTLANL | 290 |
| KCNS3 | -----LAAAPCQKKFWKNPLNIIDFVSIIP>F<YATLAVDTK---E--------EESEDIENM | 285 |
| KCNV1 | -----FLCVRDRCRFLRKVPNIIDLLAILP>F<YITLLVESLSG-S--------QTTQELENV | 307 |
| KCNV2 | -----LASTPDLRRFARSALNLVDLVAILP>L<YLQLLLECFTGEGH----QRGQTVGSVGKV | 372 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S209F | c.626C>T | Inherited Arrhythmia | LQTS | rs199472704 | 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 | ||
| Inherited Arrhythmia | LQTS | Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs. J Gen Physiol. 2010 135(5):433-48. 20421371 | |||
| Inherited Arrhythmia | LQTS | Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1. Heart Rhythm. 2015 12(2):386-94. doi: 10.1016/j.hrthm.2014.10.029. 25444851 | |||
| 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.S209P | c.625T>C | Inherited Arrhythmia | AF | rs199472705 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | AF | Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation. Heart Rhythm. 2009 6(8):1146-53. 19632626 | ||