No paralogue variants have been mapped to residue 200 for KCNQ1.
KCNQ1 | EYVVRLWSAGCRSKYVGLWGRLRFARKPIS>I<IDLIVVVASMVVLCVG-------------- | 216 |
KCNQ2 | EYFVRIWAAGCCCRYRGWRGRLKFARKPFC>V<IDIMVLIASIAVLAAG-------------- | 186 |
KCNQ3 | EFALRIWAAGCCCRYKGWRGRLKFARKPLC>M<LDIFVLIASVPVVAVG-------------- | 216 |
KCNQ4 | EYIVRVWSAGCCCRYRGWQGRFRFARKPFC>V<IDFIVFVASVAVIAAG-------------- | 192 |
KCNQ5 | EFIIRIWSAGCCCRYRGWQGRLRFARKPFC>V<IDTIVLIASIAVVSAK-------------- | 220 |
KCNA1 | ELVVR---------FFACPSKTDFFKNIMN>F<IDIVAIIPYFITLGTEIAEQEG-------N | 279 |
KCNA10 | ELVLR---------FVVCPSKTDFFRNIMN>I<IDIISIIPYFATLITELVQETEP------- | 329 |
KCNA2 | EFLVR---------FFACPSKAGFFTNIMN>I<IDIVAIIPYFITLGTELAEKPE-------D | 280 |
KCNA3 | ELLVR---------FFACPSKATFSRNIMN>L<IDIVAIIPYFITLGTELAERQ--------- | 351 |
KCNA4 | EFVVR---------CFACPSQALFFKNIMN>I<IDIVSILPYFITLGTDLAQQQGG------G | 430 |
KCNA5 | ELLVR---------FFACPSKAGFSRNIMN>I<IDVVAIFPYFITLGTELAEQQ---PGGGGG | 386 |
KCNA6 | ELLVR---------FSACPSKPAFFRNIMN>I<IDLVAIFPYFITLGTELVQQQEQQPASGGG | 328 |
KCNA7 | ELLVR---------LLVCPSKAIFFKNVMN>L<IDFVAILPYFVALGTELARQR--------- | 265 |
KCNB1 | EYLLR---------FLSSPKKWKFFKGPLN>A<IDLLAILPYYVTIFLTES---N-------- | 283 |
KCNB2 | EYLLR---------FLSSPNKWKFFKGPLN>V<IDLLAILPYYVTIFLTES---N-------- | 287 |
KCNC1 | EFLMR---------VIFCPNKVEFIKNSLN>I<IDFVAILPFYLEVGLSG------------- | 297 |
KCNC2 | EFLVR---------IVFSPNKLEFIKNLLN>I<IDFVAILPFYLEVGLSG------------- | 334 |
KCNC3 | EFLMR---------ITFCPDKVEFLKSSLN>I<IDCVAILPFYLEVGLSG------------- | 400 |
KCNC4 | EFLVR---------IVCCPDTLDFVKNLLN>I<IDFVAILPFYLEVGLSG------------- | 333 |
KCND1 | EYLLR---------LFAAPSRCRFLRSVMS>L<IDVVAILPYYIGLLVP-------------- | 282 |
KCND2 | EYLLR---------LAAAPSRYRFVRSVMS>I<IDVVAILPYYIGLVMT-------------- | 280 |
KCND3 | EYLLR---------LFAAPSRYRFIRSVMS>I<IDVVAIMPYYIGLVMT-------------- | 277 |
KCNF1 | EYLLR---------LFSSPNKLHFALSFMN>I<VDVLAILPFYVSLTLTHL-----------G | 276 |
KCNG1 | EFLLR---------LIQAPSKFAFLRSPLT>L<IDLVAILPYYITLLVDGAAAGRR----KPG | 329 |
KCNG2 | EFLLR---------SLQAESKCAFLRAPLN>I<IDILALLPFYVSLLLGL-----A----AGP | 274 |
KCNG3 | ECIVR---------FIVSKNKCEFVKRPLN>I<IDLLAITPYYISVLMTV-----------FT | 275 |
KCNG4 | EFCLR---------FVQAQDKCQFFQGPLN>I<IDILAISPYYVSLAVSEEPPEDG----ERP | 323 |
KCNS1 | EVSSR---------LLLAPSTRNFFCHPLN>L<IDIVSVLPFYLTLLAGVALG-D-------- | 328 |
KCNS2 | ELVAR---------FAVAPDFLKFFKNALN>L<IDLMSIVPFYITLVVNLV---V-------- | 281 |
KCNS3 | ELAVR---------LAAAPCQKKFWKNPLN>I<IDFVSIIPFYATLAVDTK---E-------- | 276 |
KCNV1 | EFVLR---------FLCVRDRCRFLRKVPN>I<IDLLAILPFYITLLVESLSG-S-------- | 298 |
KCNV2 | EYLLR---------LASTPDLRRFARSALN>L<VDLVAILPLYLQLLLECFTGEGH----QRG | 363 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I200V | c.598A>G | Putative Benign | SIFT: tolerated Polyphen: benign |