No paralogue variants have been mapped to residue 486 for KCNQ1.
KCNQ1 | -----PHFMRTN----------------SF>A<EDLDL------------------------- | 491 |
KCNQ2 | ---AASRQNSEE----------------AS>L<PGEDI------------------------- | 517 |
KCNQ3 | ----YAFWQSSE----------------DA>G<TGDPM------------------------- | 496 |
KCNQ4 | ------PRTSAE----------------DA>-<PSEEV------------------------- | 511 |
KCNQ5 | ---QPKPVIDAD----------------TA>L<GTDDV------------------------- | 499 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | TRTEGVIDMRSMSSIDSFISCATDFPEATR>F<SHSP---LTSLP------------SKTGGS | 619 |
KCNB2 | AQTEVIVDMKSTSSIDSFTSCATDFTETER>S<PLPPPSASHLQMKFPTDLPGTEEHQRARGP | 649 |
KCNC1 | -----------------------------C>P<HIDQA------------------------- | 525 |
KCNC2 | -----------------------------S>T<GSEPP------------------------- | 551 |
KCNC3 | -----------------------------C>P<AIDQP------------------------- | 683 |
KCNC4 | -----------------------------G>A<GLTQP------------------------- | 561 |
KCND1 | ---TFSEALGAV----------------SP>G<GRT-S------------------------- | 513 |
KCND2 | ---VFEESCMEV----------------AT>V<NRPSS------------------------- | 514 |
KCND3 | ---MFEQNCMES----------------SM>Q<NYPST------------------------- | 531 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A486T | c.1456G>A | Putative Benign | SIFT: Polyphen: | ||
p.Ala486Pro | c.1456G>C | Unknown | SIFT: Polyphen: |