No paralogue variants have been mapped to residue 628 for KCNQ1.
KCNQ1 | HQLLSLHGGS----------------TPGS>G<GPPREGG--------AHITQPCGSGGS--- | 647 |
KCNQ2 | MQRMGIPPTE--TEAYFG--AKEPEPAPPY>H<SPEDSREH---VDRHGCIVKIVRSSSSTGQ | 698 |
KCNQ3 | MQHMERLQVQ--VTE--------YYPTKGT>S<SPAEAEK--KEDNRYSDLKTIICNYSETGP | 692 |
KCNQ4 | SRCLRSGTSA--SLGAVQVPLFDPDITSDY>H<SPVDHEDISVSAQTL-SISRSVSTNM---- | 694 |
KCNQ5 | QQVLRKGSASALALASFQIPPFECEQTSDY>Q<SPVDSKDLSGSAQNSGCLSRSTSANISRGL | 688 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | ------------------------------>-<----------TLLDK--------------- | 716 |
KCNB2 | ------------------------------>-<----------SQGDR--------------- | 766 |
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.G628S | c.1882G>A | Putative Benign | SIFT: Polyphen: |