No paralogue variants have been mapped to residue 674 for KCNQ1.
KCNQ1 | -PELFLPS----NTLPTYEQLTVPRRGP-D>E<GS---------------------------- | 676 |
KCNQ2 | DHEELERSFSGFSISQSKENLDALNSCY-A>A<VAPCAK---------VRPYIAEGES---DT | 841 |
KCNQ3 | NHEELERSPSGFSISQDRDDYVFGPNGG-S>S<---WMR---------EKRYLAEGET---DT | 840 |
KCNQ4 | ------------------------------>-<------------------------------ | |
KCNQ5 | VPKDLGKSLSVQNLIRSTEELNIQLSGS-E>S<SGSRGSQDFYPKWRESKLFITDEEVGPEET | 881 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | G--TRSEKNHFESSPLPTSPKFLRQNCIYS>T<EAL-TGKGPSGQEKC-----KL-------- | 833 |
KCNB2 | GRDPLREEGSVGSSSPQDTGHNCRQDI-YH>A<VSE-VKKD-SSQEGC-----KM-------- | 885 |
KCNC1 | ------------------------PTEA-V>R<V----------------------------- | 584 |
KCNC2 | ------------------------PVTS-P>Y<NSP--------------------------- | 624 |
KCNC3 | ------------------------ANAA-A>W<IS---------------------------- | 756 |
KCNC4 | ------------------------PTAG-T>L<FLP--------------------------- | 634 |
KCND1 | PSSPGGGGRAGSTLRNSSLGTPCLFPET-V>K<ISS--------------------------- | 646 |
KCND2 | -----GDDRPE--SP------EYSGGNI-V>R<VSA--------------------------- | 629 |
KCND3 | -----GESRPPPASPGPNTNIPSIASNV-V>K<VSA--------------------------- | 654 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E674K | c.2020G>A | Putative Benign | SIFT: deleterious Polyphen: benign |