No paralogue variants have been mapped to residue 204 for KCNQ1.
| KCNQ1 | RLWSAGCRSKYVGLWGRLRFARKPISIIDL>I<VVVASMVVLCVG----------------SK | 218 |
| KCNQ2 | RIWAAGCCCRYRGWRGRLKFARKPFCVIDI>M<VLIASIAVLAAG----------------SQ | 188 |
| KCNQ3 | RIWAAGCCCRYKGWRGRLKFARKPLCMLDI>F<VLIASVPVVAVG----------------NQ | 218 |
| KCNQ4 | RVWSAGCCCRYRGWQGRFRFARKPFCVIDF>I<VFVASVAVIAAG----------------TQ | 194 |
| KCNQ5 | RIWSAGCCCRYRGWQGRLRFARKPFCVIDT>I<VLIASIAVVSAK----------------TQ | 222 |
| KCNA1 | R---------FFACPSKTDFFKNIMNFIDI>V<AIIPYFITLGTEIAEQEG-------N-QKG | 282 |
| KCNA10 | R---------FVVCPSKTDFFRNIMNIIDI>I<SIIPYFATLITELVQETEP---------SA | 331 |
| KCNA2 | R---------FFACPSKAGFFTNIMNIIDI>V<AIIPYFITLGTELAEKPE-------DAQQG | 284 |
| KCNA3 | R---------FFACPSKATFSRNIMNLIDI>V<AIIPYFITLGTELAERQ----------GNG | 354 |
| KCNA4 | R---------CFACPSQALFFKNIMNIIDI>V<SILPYFITLGTDLAQQQGG------GNGQQ | 434 |
| KCNA5 | R---------FFACPSKAGFSRNIMNIIDV>V<AIFPYFITLGTELAEQQ---PGGGGGGQNG | 390 |
| KCNA6 | R---------FSACPSKPAFFRNIMNIIDL>V<AIFPYFITLGTELVQQQEQQPASGGGGQNG | 332 |
| KCNA7 | R---------LLVCPSKAIFFKNVMNLIDF>V<AILPYFVALGTELARQR----------GVG | 268 |
| KCNB1 | R---------FLSSPKKWKFFKGPLNAIDL>L<AILPYYVTIFLTES---N--------KSVL | 287 |
| KCNB2 | R---------FLSSPNKWKFFKGPLNVIDL>L<AILPYYVTIFLTES---N--------KSVL | 291 |
| KCNC1 | R---------VIFCPNKVEFIKNSLNIIDF>V<AILPFYLEVGLSG-------------LSSK | 301 |
| KCNC2 | R---------IVFSPNKLEFIKNLLNIIDF>V<AILPFYLEVGLSG-------------LSSK | 338 |
| KCNC3 | R---------ITFCPDKVEFLKSSLNIIDC>V<AILPFYLEVGLSG-------------LSSK | 404 |
| KCNC4 | R---------IVCCPDTLDFVKNLLNIIDF>V<AILPFYLEVGLSG-------------LSSK | 337 |
| KCND1 | R---------LFAAPSRCRFLRSVMSLIDV>V<AILPYYIGLLVP------------------ | 282 |
| KCND2 | R---------LAAAPSRYRFVRSVMSIIDV>V<AILPYYIGLVMT------------------ | 280 |
| KCND3 | R---------LFAAPSRYRFIRSVMSIIDV>V<AIMPYYIGLVMT------------------ | 277 |
| KCNF1 | R---------LFSSPNKLHFALSFMNIVDV>L<AILPFYVSLTLTHL-----------GARMM | 280 |
| KCNG1 | R---------LIQAPSKFAFLRSPLTLIDL>V<AILPYYITLLVDGAAAGRR----KPGAGNS | 333 |
| KCNG2 | R---------SLQAESKCAFLRAPLNIIDI>L<ALLPFYVSLLLGL-----A----AGPGGTK | 278 |
| KCNG3 | R---------FIVSKNKCEFVKRPLNIIDL>L<AITPYYISVLMTV-----------FTGENS | 279 |
| KCNG4 | R---------FVQAQDKCQFFQGPLNIIDI>L<AISPYYVSLAVSEEPPEDG----ERPSGSS | 327 |
| KCNS1 | R---------LLLAPSTRNFFCHPLNLIDI>V<SVLPFYLTLLAGVALG-D--------QGGK | 332 |
| KCNS2 | R---------FAVAPDFLKFFKNALNLIDL>M<SIVPFYITLVVNLV---V--------ESTP | 285 |
| KCNS3 | R---------LAAAPCQKKFWKNPLNIIDF>V<SIIPFYATLAVDTK---E--------EESE | 280 |
| KCNV1 | R---------FLCVRDRCRFLRKVPNIIDL>L<AILPFYITLLVESLSG-S--------QTTQ | 302 |
| KCNV2 | R---------LASTPDLRRFARSALNLVDL>V<AILPLYLQLLLECFTGEGH----QRGQTVG | 367 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I204F | c.610A>T | Inherited Arrhythmia | LQTS | rs199472703 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| 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 | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| 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 | |||
| p.I204M | c.612C>G | Inherited Arrhythmia | LQTS | rs199473455 | SIFT: tolerated Polyphen: possibly 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 | 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 | |||
| 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 | |||