No paralogue variants have been mapped to residue 613 for KCNQ1.
KCNQ1 | RGSNTIGARLNRVEDKVTQLDQRLALITDM>L<HQLLSLHGGS----------------TPGS | 627 |
KCNQ2 | PEDPSMMGRLGKVEKQVLSMEKKLDFLVNI>Y<MQRMGIPPTE--TEAYFG--AKEPEPAPPY | 670 |
KCNQ3 | -EDQSMMGKFVKVERQVQDMGKKLDFLVDM>H<MQHMERLQVQ--VTE--------YYPTKGT | 663 |
KCNQ4 | VDEISMMGRVVKVEKQVQSIEHKLDLLLGF>Y<SRCLRSGTSA--SLGAVQVPLFDPDITSDY | 668 |
KCNQ5 | TDDLSMLGRVVKVEKQVQSIESKLDCLLDI>Y<QQVLRKGSASALALASFQIPPFECEQTSDY | 657 |
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.L613F | c.1837C>T | Putative Benign | SIFT: Polyphen: |