No paralogue variants have been mapped to residue 499 for KCNQ1.
KCNQ1 | -------EGET----------------LLT>P<ITHISQLREHHRATIKV------------- | 516 |
KCNQ2 | -------VDDK----------------SCP>C<EFVTEDLTPGLKVSIRA------------- | 542 |
KCNQ3 | -------AEDR----------------GYG>N<DFPIEDMIPTLKAAIRA------------- | 521 |
KCNQ4 | -------AEEK----------------SYQ>C<ELTVDDIMPAVKTVIRS------------- | 536 |
KCNQ5 | -------YDEK----------------GCQ>C<DVSVEDLTPPLKTVIRA------------- | 524 |
KCNA1 | -----------------------------T>A<N----CTTAN--QNCVN------------- | 487 |
KCNA10 | ------------------------------>-<----------------G------------- | 503 |
KCNA2 | -----------------------------T>A<N----CTLAN--TNYVN------------- | 491 |
KCNA3 | -----------------------------T>A<T----CTTNNNPNSCVN------------- | 567 |
KCNA4 | -----------------------------G>D<D----SETDK--NNCSN------------- | 645 |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------P-----HRAYA------------- | 521 |
KCNA7 | ------------------------------>-<------------LWAPP------------- | 448 |
KCNB1 | --RF--VEAN-------PSPDASQHSSFFI>E<SPKSSMKTNNPLKLRAL------------- | 672 |
KCNB2 | EYAPVDITVNLDASGSQCGLHSPLQSDNAT>D<SPKSSLKGSNPLKSRSL------------- | 715 |
KCNC1 | ---------------------------LTP>D<EGLPFTRSGTRERY--G------------- | 544 |
KCNC2 | ---------------------------LSP>P<ERLPIRRSSTRDKNRRG------------- | 572 |
KCNC3 | -------A-------------------MSP>E<DKSPIT-PGSRGRYSRD------------- | 704 |
KCNC4 | -------LASS----------------PTP>E<ERRALRRSTTRDRNKKA------------- | 586 |
KCND1 | -------RSTS----------------VSS>Q<PVGPGSLLSSCCPRRAKRRAIRLANSTASV | 551 |
KCND2 | -------HSPS----------------LSS>Q<Q----GVTSTCCSRRHKK-TFRIPNANVSG | 547 |
KCND3 | -------RSPS----------------LSS>H<P----GLTTTCCSRRSKK-TTHLPNSNLPA | 564 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P499S | c.1495C>T | Putative Benign | SIFT: Polyphen: |