No paralogue variants have been mapped to residue 641 for KCNQ1.
KCNQ1 | -----TPGSGGPPREGG--------AHITQ>P<CGSGGS------------------------ | 647 |
KCNQ2 | KEPEPAPPYHSPEDSREH---VDRHGCIVK>I<VRSSSSTGQ------------------K-- | 699 |
KCNQ3 | --YYPTKGTSSPAEAEK--KEDNRYSDLKT>I<ICNYSETGPPEPP----------------- | 696 |
KCNQ4 | FDPDITSDYHSPVDHEDISVSAQTL-SISR>S<VSTNM------------------------- | 694 |
KCNQ5 | FECEQTSDYQSPVDSKDLSGSAQNSGCLSR>S<TSANISRGLQFILTPNEFSAQTFYALSP-- | 707 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | --------------------TLLDK----->-<------------AVLSPESSIYTTASAKTP | 734 |
KCNB2 | --------------------SQGDR----->-<------------PLLGTEVSAPCQGPSKGL | 784 |
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.P641L | c.1922C>T | Putative Benign | SIFT: deleterious Polyphen: benign |