No paralogue variants have been mapped to residue 488 for KCNQ1.
KCNQ1 | ---PHFMRTN----------------SFAE>D<LDL--------------------------- | 491 |
KCNQ2 | -AASRQNSEE----------------ASLP>G<EDI--------------------------- | 517 |
KCNQ3 | --YAFWQSSE----------------DAGT>G<DPM--------------------------- | 496 |
KCNQ4 | ----PRTSAE----------------DA-P>S<EEV--------------------------- | 511 |
KCNQ5 | -QPKPVIDAD----------------TALG>T<DDV--------------------------- | 499 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | TEGVIDMRSMSSIDSFISCATDFPEATRFS>H<SP---LTSLP------------SKTGGSTA | 621 |
KCNB2 | TEVIVDMKSTSSIDSFTSCATDFTETERSP>L<PPPSASHLQMKFPTDLPGTEEHQRARGPPF | 651 |
KCNC1 | ---------------------------CPH>I<DQA--------------------------- | 525 |
KCNC2 | ---------------------------STG>S<EPP--------------------------- | 551 |
KCNC3 | ---------------------------CPA>I<DQP--------------------------- | 683 |
KCNC4 | ---------------------------GAG>L<TQP--------------------------- | 561 |
KCND1 | -TFSEALGAV----------------SPGG>R<T-S--------------------------- | 513 |
KCND2 | -VFEESCMEV----------------ATVN>R<PSS--------------------------- | 514 |
KCND3 | -MFEQNCMES----------------SMQN>Y<PST--------------------------- | 531 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D488E | c.1464C>A | Putative Benign | SIFT: Polyphen: |