No paralogue variants have been mapped to residue 580 for KCNQ1.
KCNQ1 | ---------V-----------------SEK>S<KDRGSNTIGARLNRVEDKVTQLDQRLALIT | 610 |
KCNQ2 | KDR--T--KG-----------------PAE>A<ELPEDPSMMGRLGKVEKQVLSMEKKLDFLV | 641 |
KCNQ3 | KHKKSQKGSAFTFPSQQSPRNEPYVARPST>S<EI-EDQSMMGKFVKVERQVQDMGKKLDFLV | 640 |
KCNQ4 | EKG--D--KG-----------------PSD>A<EVVDEISMMGRVVKVEKQVQSIEHKLDLLL | 637 |
KCNQ5 | KSR--E--KI-----------------TAE>H<ETTDDLSMLGRVVKVEKQVQSIESKLDCLL | 624 |
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.S580G | c.1738A>G | Putative Benign | rs200476771 | SIFT: tolerated Polyphen: benign |