No paralogue variants have been mapped to residue 197 for KCNQ1.
| KCNQ1 | FGTEYVVRLWSAGCRSKYVGLWGRLRFARK>P<ISIIDLIVVVASMVVLCVG----------- | 216 |
| KCNQ2 | FGVEYFVRIWAAGCCCRYRGWRGRLKFARK>P<FCVIDIMVLIASIAVLAAG----------- | 186 |
| KCNQ3 | FGAEFALRIWAAGCCCRYKGWRGRLKFARK>P<LCMLDIFVLIASVPVVAVG----------- | 216 |
| KCNQ4 | FGLEYIVRVWSAGCCCRYRGWQGRFRFARK>P<FCVIDFIVFVASVAVIAAG----------- | 192 |
| KCNQ5 | FGLEFIIRIWSAGCCCRYRGWQGRLRFARK>P<FCVIDTIVLIASIAVVSAK----------- | 220 |
| KCNA1 | FSFELVVR---------FFACPSKTDFFKN>I<MNFIDIVAIIPYFITLGTEIAEQEG----- | 278 |
| KCNA10 | FTFELVLR---------FVVCPSKTDFFRN>I<MNIIDIISIIPYFATLITELVQETEP---- | 329 |
| KCNA2 | FSFEFLVR---------FFACPSKAGFFTN>I<MNIIDIVAIIPYFITLGTELAEKPE----- | 279 |
| KCNA3 | FSFELLVR---------FFACPSKATFSRN>I<MNLIDIVAIIPYFITLGTELAERQ------ | 351 |
| KCNA4 | FSFEFVVR---------CFACPSQALFFKN>I<MNIIDIVSILPYFITLGTDLAQQQGG---- | 429 |
| KCNA5 | FTFELLVR---------FFACPSKAGFSRN>I<MNIIDVVAIFPYFITLGTELAEQQ---PGG | 383 |
| KCNA6 | FTFELLVR---------FSACPSKPAFFRN>I<MNIIDLVAIFPYFITLGTELVQQQEQQPAS | 325 |
| KCNA7 | FSFELLVR---------LLVCPSKAIFFKN>V<MNLIDFVAILPYFVALGTELARQR------ | 265 |
| KCNB1 | FTMEYLLR---------FLSSPKKWKFFKG>P<LNAIDLLAILPYYVTIFLTES---N----- | 283 |
| KCNB2 | FTMEYLLR---------FLSSPNKWKFFKG>P<LNVIDLLAILPYYVTIFLTES---N----- | 287 |
| KCNC1 | FTFEFLMR---------VIFCPNKVEFIKN>S<LNIIDFVAILPFYLEVGLSG---------- | 297 |
| KCNC2 | FTFEFLVR---------IVFSPNKLEFIKN>L<LNIIDFVAILPFYLEVGLSG---------- | 334 |
| KCNC3 | FTFEFLMR---------ITFCPDKVEFLKS>S<LNIIDCVAILPFYLEVGLSG---------- | 400 |
| KCNC4 | FTLEFLVR---------IVCCPDTLDFVKN>L<LNIIDFVAILPFYLEVGLSG---------- | 333 |
| KCND1 | FTGEYLLR---------LFAAPSRCRFLRS>V<MSLIDVVAILPYYIGLLVP----------- | 282 |
| KCND2 | FTVEYLLR---------LAAAPSRYRFVRS>V<MSIIDVVAILPYYIGLVMT----------- | 280 |
| KCND3 | FTVEYLLR---------LFAAPSRYRFIRS>V<MSIIDVVAIMPYYIGLVMT----------- | 277 |
| KCNF1 | FTLEYLLR---------LFSSPNKLHFALS>F<MNIVDVLAILPFYVSLTLTHL--------- | 275 |
| KCNG1 | FSLEFLLR---------LIQAPSKFAFLRS>P<LTLIDLVAILPYYITLLVDGAAAGRR---- | 326 |
| KCNG2 | FSFEFLLR---------SLQAESKCAFLRA>P<LNIIDILALLPFYVSLLLGL-----A---- | 271 |
| KCNG3 | FTAECIVR---------FIVSKNKCEFVKR>P<LNIIDLLAITPYYISVLMTV---------- | 273 |
| KCNG4 | FSLEFCLR---------FVQAQDKCQFFQG>P<LNIIDILAISPYYVSLAVSEEPPEDG---- | 320 |
| KCNS1 | FSFEVSSR---------LLLAPSTRNFFCH>P<LNLIDIVSVLPFYLTLLAGVALG-D----- | 328 |
| KCNS2 | FTFELVAR---------FAVAPDFLKFFKN>A<LNLIDLMSIVPFYITLVVNLV---V----- | 281 |
| KCNS3 | FTGELAVR---------LAAAPCQKKFWKN>P<LNIIDFVSIIPFYATLAVDTK---E----- | 276 |
| KCNV1 | FTGEFVLR---------FLCVRDRCRFLRK>V<PNIIDLLAILPFYITLLVESLSG-S----- | 298 |
| KCNV2 | FTLEYLLR---------LASTPDLRRFARS>A<LNLVDLVAILPLYLQLLLECFTGEGH---- | 360 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P197L | c.590C>T | Inherited Arrhythmia | LQTS | rs200108320 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | ||
| p.Pro197Ser | c.589C>T | Unknown | SIFT: Polyphen: | ||