No paralogue variants have been mapped to residue 215 for KCNQ1.
| KCNQ1 | VGLWGRLRFARKPISIIDLIVVVASMVVLC>V<G----------------SKGQVFATSAIRG | 229 |
| KCNQ2 | RGWRGRLKFARKPFCVIDIMVLIASIAVLA>A<G----------------SQGNVFATSALRS | 199 |
| KCNQ3 | KGWRGRLKFARKPLCMLDIFVLIASVPVVA>V<G----------------NQGNVLA-TSLRS | 228 |
| KCNQ4 | RGWQGRFRFARKPFCVIDFIVFVASVAVIA>A<G----------------TQGNIFATSALRS | 205 |
| KCNQ5 | RGWQGRLRFARKPFCVIDTIVLIASIAVVS>A<K----------------TQGNIFATSALRS | 233 |
| KCNA1 | FACPSKTDFFKNIMNFIDIVAIIPYFITLG>T<EIAEQEG-------N-QKGEQATSLAILRV | 293 |
| KCNA10 | VVCPSKTDFFRNIMNIIDIISIIPYFATLI>T<ELVQETEP---------SAQQNMSLAILRI | 342 |
| KCNA2 | FACPSKAGFFTNIMNIIDIVAIIPYFITLG>T<ELAEKPE-------DAQQGQQAMSLAILRV | 295 |
| KCNA3 | FACPSKATFSRNIMNLIDIVAIIPYFITLG>T<ELAERQ----------GNGQQAMSLAILRV | 365 |
| KCNA4 | FACPSQALFFKNIMNIIDIVSILPYFITLG>T<DLAQQQGG------GNGQQQQAMSFAILRI | 445 |
| KCNA5 | FACPSKAGFSRNIMNIIDVVAIFPYFITLG>T<ELAEQQ---PGGGGGGQNGQQAMSLAILRV | 401 |
| KCNA6 | SACPSKPAFFRNIMNIIDLVAIFPYFITLG>T<ELVQQQEQQPASGGGGQNGQQAMSLAILRV | 343 |
| KCNA7 | LVCPSKAIFFKNVMNLIDFVAILPYFVALG>T<ELARQR----------GVGQQAMSLAILRV | 279 |
| KCNB1 | LSSPKKWKFFKGPLNAIDLLAILPYYVTIF>L<TES---N--------KSVLQFQNVRRVVQI | 298 |
| KCNB2 | LSSPNKWKFFKGPLNVIDLLAILPYYVTIF>L<TES---N--------KSVLQFQNVRRVVQI | 302 |
| KCNC1 | IFCPNKVEFIKNSLNIIDFVAILPFYLEVG>L<SG-------------LSSKAAKDVLGFLRV | 312 |
| KCNC2 | VFSPNKLEFIKNLLNIIDFVAILPFYLEVG>L<SG-------------LSSKAAKDVLGFLRV | 349 |
| KCNC3 | TFCPDKVEFLKSSLNIIDCVAILPFYLEVG>L<SG-------------LSSKAAKDVLGFLRV | 415 |
| KCNC4 | VCCPDTLDFVKNLLNIIDFVAILPFYLEVG>L<SG-------------LSSKAARDVLGFLRV | 348 |
| KCND1 | FAAPSRCRFLRSVMSLIDVVAILPYYIGLL>V<P------------------KNDDVSGAFVT | 293 |
| KCND2 | AAAPSRYRFVRSVMSIIDVVAILPYYIGLV>M<T------------------DNEDVSGAFVT | 291 |
| KCND3 | FAAPSRYRFIRSVMSIIDVVAIMPYYIGLV>M<T------------------NNEDVSGAFVT | 288 |
| KCNF1 | FSSPNKLHFALSFMNIVDVLAILPFYVSLT>L<THL-----------GARMMELTNVQQAVQA | 291 |
| KCNG1 | IQAPSKFAFLRSPLTLIDLVAILPYYITLL>V<DGAAAGRR----KPGAGNSYLDKVGLVLRV | 344 |
| KCNG2 | LQAESKCAFLRAPLNIIDILALLPFYVSLL>L<GL-----A----AGPGGTKLLERAGLVLRL | 289 |
| KCNG3 | IVSKNKCEFVKRPLNIIDLLAITPYYISVL>M<TV-----------FTGENSQLQRAGVTLRV | 290 |
| KCNG4 | VQAQDKCQFFQGPLNIIDILAISPYYVSLA>V<SEEPPEDG----ERPSGSSYLEKVGLVLRV | 338 |
| KCNS1 | LLAPSTRNFFCHPLNLIDIVSVLPFYLTLL>A<GVALG-D--------QGGKEFGHLGKVVQV | 343 |
| KCNS2 | AVAPDFLKFFKNALNLIDLMSIVPFYITLV>V<NLV---V--------ESTPTLANLGRVAQV | 296 |
| KCNS3 | AAAPCQKKFWKNPLNIIDFVSIIPFYATLA>V<DTK---E--------EESEDIENMGKVVQI | 291 |
| KCNV1 | LCVRDRCRFLRKVPNIIDLLAILPFYITLL>V<ESLSG-S--------QTTQELENVGRIVQV | 313 |
| KCNV2 | ASTPDLRRFARSALNLVDLVAILPLYLQLL>L<ECFTGEGH----QRGQTVGSVGKVGQVLRV | 378 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V215M | c.643G>A | Inherited Arrhythmia | LQTS,JLNS | rs17215479 | 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 | 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 | JLNS | Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013 6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684 23392653 | |||
| p.V215G | c.644T>G | Putative Benign | rs368011737 | SIFT: deleterious Polyphen: probably damaging | |