No paralogue variants have been mapped to residue 623 for KCNQ1.
KCNQ1 | NRVEDKVTQLDQRLALITDMLHQLLSLHGG>S<----------------TPGSGGPPREGG-- | 635 |
KCNQ2 | GKVEKQVLSMEKKLDFLVNIYMQRMGIPPT>E<--TEAYFG--AKEPEPAPPYHSPEDSREH- | 679 |
KCNQ3 | VKVERQVQDMGKKLDFLVDMHMQHMERLQV>Q<--VTE--------YYPTKGTSSPAEAEK-- | 671 |
KCNQ4 | VKVEKQVQSIEHKLDLLLGFYSRCLRSGTS>A<--SLGAVQVPLFDPDITSDYHSPVDHEDIS | 678 |
KCNQ5 | VKVEKQVQSIESKLDCLLDIYQQVLRKGSA>S<ALALASFQIPPFECEQTSDYQSPVDSKDLS | 667 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | ------------------------------>-<------------------------------ | |
KCNB2 | ------------------------------>-<------------------------------ | |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | ------------------------------>-<------------------------------ | |
KCND2 | ------------------------------>-<------------------------------ | |
KCND3 | ------------------------------>-<------------------------------ | |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S623I | c.1868G>T | Putative Benign | SIFT: Polyphen: |