No paralogue variants have been mapped to residue 667 for KCNQ1.
KCNQ1 | ---------PELFLPS----NTLPTYEQLT>V<PRRGP-DEGS-------------------- | 676 |
KCNQ2 | TSISIPSVDHEELERSFSGFSISQSKENLD>A<LNSCY-AAVAPCAK---------VRPYIAE | 836 |
KCNQ3 | TPLSLMSVNHEELERSPSGFSISQDRDDYV>F<GPNGG-SS---WMR---------EKRYLAE | 835 |
KCNQ4 | ------------------------------>-<------------------------------ | |
KCNQ5 | TLLSVCPMVPKDLGKSLSVQNLIRSTEELN>I<QLSGS-ESSGSRGSQDFYPKWRESKLFITD | 873 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | STSPKFSTG--TRSEKNHFESSPLPTSPKF>L<RQNCIYSTEAL-TGKGPSGQEKC-----KL | 833 |
KCNB2 | CFADKPSDGRDPLREEGSVGSSSPQDTGHN>C<RQDI-YHAVSE-VKKD-SSQEGC-----KM | 885 |
KCNC1 | ------------------------------>-<-PTEA-VRV--------------------- | 584 |
KCNC2 | ------------------------------>-<-PVTS-PYNSP------------------- | 624 |
KCNC3 | ------------------------------>-<-ANAA-AWIS-------------------- | 756 |
KCNC4 | ------------------------------>-<-PTAG-TLFLP------------------- | 634 |
KCND1 | ---PDESQPSSPGGGGRAGSTLRNSSLGTP>C<LFPET-VKISS------------------- | 646 |
KCND2 | ---PE--------GDDRPE--SP------E>Y<SGGNI-VRVSA------------------- | 629 |
KCND3 | ---PE--------GESRPPPASPGPNTNIP>S<IASNV-VKVSA------------------- | 654 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V667M | c.1999G>A | Putative Benign | SIFT: Polyphen: |