No paralogue variants have been mapped to residue 432 for KCNQ1.
KCNQ1 | KKFKLDKDNGV------------------->T<P-GEKMLTVPHITCDPPEERRL-------- | 453 |
KCNQ2 | DRV-FSSPRGV------------------->A<AKGKGSPQAQTVRRSPSADQSLED-SPSKV | 480 |
KCNQ3 | DRVRLSNPRGS------------------->N<TKGKL--------FTPLNVDAIEE-SPSKE | 460 |
KCNQ4 | DRIRMGSSQRR------------------->T<GPSKQHLAPPTMPTSPSSEQVGEATSPTKV | 479 |
KCNQ5 | ERVRMASPRGQ------------------->S<IKSRQ--ASVGDRRSPSTDITAEG-SPTKV | 461 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | KRTLSETSSSK------------------->S<FETKEQGSPEK-------ARSSSSPQH--- | 523 |
KCNB2 | RKALSETSSNK------------------->S<FENKYQEVSQKDSHEQLNNTSSSSPQH--- | 534 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | ----------T------------------->C<HE-----------------F---------- | 493 |
KCND2 | ----------T------------------->N<HE-----------------F---------- | 493 |
KCND3 | ----------TGLSYLVDDPLLSVRTSTIK>N<HE-----------------F---------- | 510 |
KCNF1 | -----IPLLTE------------------->-<------------------------------ | 482 |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | -----CNTTSL------------------->E<NCTA-------------------------- | 490 |
KCNV1 | -----W------------------------>-<------------------------------ | 499 |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T432I | c.1295C>T | Putative Benign | SIFT: Polyphen: |