No paralogue variants have been mapped to residue 646 for KCNQ1.
KCNQ1 | TPGSGGPPREGG--------AHITQPCGSG>G<S----------------------------- | 647 |
KCNQ2 | APPYHSPEDSREH---VDRHGCIVKIVRSS>S<STGQ------------------K----NFS | 702 |
KCNQ3 | TKGTSSPAEAEK--KEDNRYSDLKTIICNY>S<ETGPPEPP-------------------YSF | 699 |
KCNQ4 | TSDYHSPVDHEDISVSAQTL-SISRSVSTN>M<------------------------------ | 694 |
KCNQ5 | TSDYQSPVDSKDLSGSAQNSGCLSRSTSAN>I<SRGLQFILTPNEFSAQTFYALSP----TMH | 710 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | ---------------TLLDK---------->-<-------AVLSPESSIYTTASAKTPPRSPE | 739 |
KCNB2 | ---------------SQGDR---------->-<-------PLLGTEVSAPCQGPSKGLSPRFP | 789 |
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.G646S | c.1936G>A | Putative Benign | SIFT: Polyphen: |