No paralogue variants have been mapped to residue 612 for KCNQ1.
KCNQ1 | DRGSNTIGARLNRVEDKVTQLDQRLALITD>M<LHQLLSLHGGS----------------TPG | 626 |
KCNQ2 | LPEDPSMMGRLGKVEKQVLSMEKKLDFLVN>I<YMQRMGIPPTE--TEAYFG--AKEPEPAPP | 669 |
KCNQ3 | I-EDQSMMGKFVKVERQVQDMGKKLDFLVD>M<HMQHMERLQVQ--VTE--------YYPTKG | 662 |
KCNQ4 | VVDEISMMGRVVKVEKQVQSIEHKLDLLLG>F<YSRCLRSGTSA--SLGAVQVPLFDPDITSD | 667 |
KCNQ5 | TTDDLSMLGRVVKVEKQVQSIESKLDCLLD>I<YQQVLRKGSASALALASFQIPPFECEQTSD | 656 |
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.Met612Ile | c.1836G>A | Unknown | SIFT: Polyphen: |