No paralogue variants have been mapped to residue 198 for KCNQ1.
KCNQ1 | GTEYVVRLWSAGCRSKYVGLWGRLRFARKP>I<SIIDLIVVVASMVVLCVG------------ | 216 |
KCNQ2 | GVEYFVRIWAAGCCCRYRGWRGRLKFARKP>F<CVIDIMVLIASIAVLAAG------------ | 186 |
KCNQ3 | GAEFALRIWAAGCCCRYKGWRGRLKFARKP>L<CMLDIFVLIASVPVVAVG------------ | 216 |
KCNQ4 | GLEYIVRVWSAGCCCRYRGWQGRFRFARKP>F<CVIDFIVFVASVAVIAAG------------ | 192 |
KCNQ5 | GLEFIIRIWSAGCCCRYRGWQGRLRFARKP>F<CVIDTIVLIASIAVVSAK------------ | 220 |
KCNA1 | SFELVVR---------FFACPSKTDFFKNI>M<NFIDIVAIIPYFITLGTEIAEQEG------ | 278 |
KCNA10 | TFELVLR---------FVVCPSKTDFFRNI>M<NIIDIISIIPYFATLITELVQETEP----- | 329 |
KCNA2 | SFEFLVR---------FFACPSKAGFFTNI>M<NIIDIVAIIPYFITLGTELAEKPE------ | 279 |
KCNA3 | SFELLVR---------FFACPSKATFSRNI>M<NLIDIVAIIPYFITLGTELAERQ------- | 351 |
KCNA4 | SFEFVVR---------CFACPSQALFFKNI>M<NIIDIVSILPYFITLGTDLAQQQGG----- | 429 |
KCNA5 | TFELLVR---------FFACPSKAGFSRNI>M<NIIDVVAIFPYFITLGTELAEQQ---PGGG | 384 |
KCNA6 | TFELLVR---------FSACPSKPAFFRNI>M<NIIDLVAIFPYFITLGTELVQQQEQQPASG | 326 |
KCNA7 | SFELLVR---------LLVCPSKAIFFKNV>M<NLIDFVAILPYFVALGTELARQR------- | 265 |
KCNB1 | TMEYLLR---------FLSSPKKWKFFKGP>L<NAIDLLAILPYYVTIFLTES---N------ | 283 |
KCNB2 | TMEYLLR---------FLSSPNKWKFFKGP>L<NVIDLLAILPYYVTIFLTES---N------ | 287 |
KCNC1 | TFEFLMR---------VIFCPNKVEFIKNS>L<NIIDFVAILPFYLEVGLSG----------- | 297 |
KCNC2 | TFEFLVR---------IVFSPNKLEFIKNL>L<NIIDFVAILPFYLEVGLSG----------- | 334 |
KCNC3 | TFEFLMR---------ITFCPDKVEFLKSS>L<NIIDCVAILPFYLEVGLSG----------- | 400 |
KCNC4 | TLEFLVR---------IVCCPDTLDFVKNL>L<NIIDFVAILPFYLEVGLSG----------- | 333 |
KCND1 | TGEYLLR---------LFAAPSRCRFLRSV>M<SLIDVVAILPYYIGLLVP------------ | 282 |
KCND2 | TVEYLLR---------LAAAPSRYRFVRSV>M<SIIDVVAILPYYIGLVMT------------ | 280 |
KCND3 | TVEYLLR---------LFAAPSRYRFIRSV>M<SIIDVVAIMPYYIGLVMT------------ | 277 |
KCNF1 | TLEYLLR---------LFSSPNKLHFALSF>M<NIVDVLAILPFYVSLTLTHL---------- | 275 |
KCNG1 | SLEFLLR---------LIQAPSKFAFLRSP>L<TLIDLVAILPYYITLLVDGAAAGRR----K | 327 |
KCNG2 | SFEFLLR---------SLQAESKCAFLRAP>L<NIIDILALLPFYVSLLLGL-----A----A | 272 |
KCNG3 | TAECIVR---------FIVSKNKCEFVKRP>L<NIIDLLAITPYYISVLMTV----------- | 273 |
KCNG4 | SLEFCLR---------FVQAQDKCQFFQGP>L<NIIDILAISPYYVSLAVSEEPPEDG----E | 321 |
KCNS1 | SFEVSSR---------LLLAPSTRNFFCHP>L<NLIDIVSVLPFYLTLLAGVALG-D------ | 328 |
KCNS2 | TFELVAR---------FAVAPDFLKFFKNA>L<NLIDLMSIVPFYITLVVNLV---V------ | 281 |
KCNS3 | TGELAVR---------LAAAPCQKKFWKNP>L<NIIDFVSIIPFYATLAVDTK---E------ | 276 |
KCNV1 | TGEFVLR---------FLCVRDRCRFLRKV>P<NIIDLLAILPFYITLLVESLSG-S------ | 298 |
KCNV2 | TLEYLLR---------LASTPDLRRFARSA>L<NLVDLVAILPLYLQLLLECFTGEGH----Q | 361 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I198V | c.592A>G | Inherited Arrhythmia | LQTS | rs199472700 | SIFT: deleterious Polyphen: probably damaging |
Reports | 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 |