No paralogue variants have been mapped to residue 428 for KCNQ1.
KCNQ1 | ------TLLSPSPKPKKSVVVKKKKFKLDK>D<NGV-------------------TP-GEKML | 438 |
KCNQ2 | SP-CRGPLCGCCPGRSSQKVSLKDRV-FSS>P<RGV-------------------AAKGKGSP | 458 |
KCNQ3 | --------KEQLEAASSQKLGLLDRVRLSN>P<RGS-------------------NTKGKL-- | 444 |
KCNQ4 | VATCHRPGSTSFCPGESSRMGIKDRIRMGS>S<QRR-------------------TGPSKQHL | 456 |
KCNQ5 | LHTCSPTKKEQGEASSSQKLSFKERVRMAS>P<RGQ-------------------SIKSRQ-- | 439 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | ----------------------TKRTLSET>S<SSK-------------------SFETKEQG | 510 |
KCNB2 | ----------------------ARKALSET>S<SNK-------------------SFENKYQE | 514 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | ------------------------------>-<--T-------------------CHE----- | 492 |
KCND2 | ------------------------------>-<--T-------------------NHE----- | 492 |
KCND3 | ------------------------------>-<--TGLSYLVDDPLLSVRTSTIKNHE----- | 509 |
KCNF1 | ----------------------------IP>L<LTE--------------------------- | 482 |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ----------------------------CN>T<TSL-------------------ENCTA--- | 490 |
KCNV1 | ----------------------------W->-<------------------------------ | 499 |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D428G | c.1283A>G | Putative Benign | rs199472779 | SIFT: tolerated Polyphen: benign | |
Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 |