No paralogue variants have been mapped to residue 430 for KCNQ1.
KCNQ1 | ----TLLSPSPKPKKSVVVKKKKFKLDKDN>G<V-------------------TP-GEKMLTV | 440 |
KCNQ2 | -CRGPLCGCCPGRSSQKVSLKDRV-FSSPR>G<V-------------------AAKGKGSPQA | 460 |
KCNQ3 | ------KEQLEAASSQKLGLLDRVRLSNPR>G<S-------------------NTKGKL---- | 444 |
KCNQ4 | TCHRPGSTSFCPGESSRMGIKDRIRMGSSQ>R<R-------------------TGPSKQHLAP | 458 |
KCNQ5 | TCSPTKKEQGEASSSQKLSFKERVRMASPR>G<Q-------------------SIKSRQ--AS | 441 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | --------------------TKRTLSETSS>S<K-------------------SFETKEQGSP | 512 |
KCNB2 | --------------------ARKALSETSS>N<K-------------------SFENKYQEVS | 516 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | ------------------------------>-<T-------------------CHE------- | 492 |
KCND2 | ------------------------------>-<T-------------------NHE------- | 492 |
KCND3 | ------------------------------>-<TGLSYLVDDPLLSVRTSTIKNHE------- | 509 |
KCNF1 | --------------------------IPLL>T<E----------------------------- | 482 |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | --------------------------CNTT>S<L-------------------ENCTA----- | 490 |
KCNV1 | --------------------------W--->-<------------------------------ | 499 |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G430R | c.1288G>A | Putative Benign | rs267602833 | SIFT: tolerated Polyphen: probably damaging |