No paralogue variants have been mapped to residue 434 for KCNQ1.
KCNQ1 | KLDKDNGV-------------------TP->G<EKMLTVPHITCDPPEERRL--------DHF | 456 |
KCNQ2 | -FSSPRGV-------------------AAK>G<KGSPQAQTVRRSPSADQSLED-SPSKVPKS | 483 |
KCNQ3 | RLSNPRGS-------------------NTK>G<KL--------FTPLNVDAIEE-SPSKEPKP | 463 |
KCNQ4 | RMGSSQRR-------------------TGP>S<KQHLAPPTMPTSPSSEQVGEATSPTKVQKS | 482 |
KCNQ5 | RMASPRGQ-------------------SIK>S<RQ--ASVGDRRSPSTDITAEG-SPTKVQKS | 464 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | LSETSSSK-------------------SFE>T<KEQGSPEK-------ARSSSSPQH-----L | 524 |
KCNB2 | LSETSSNK-------------------SFE>N<KYQEVSQKDSHEQLNNTSSSSPQH-----L | 535 |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | -------T-------------------CHE>-<----------------F------------T | 494 |
KCND2 | -------T-------------------NHE>-<----------------F------------V | 494 |
KCND3 | -------TGLSYLVDDPLLSVRTSTIKNHE>-<----------------F------------I | 511 |
KCNF1 | --IPLLTE---------------------->-<------------------------------ | 482 |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | --CNTTSL-------------------ENC>T<A----------------------------- | 490 |
KCNV1 | --W--------------------------->-<------------------------------ | 499 |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G434R | c.1300G>A | Putative Benign | SIFT: Polyphen: |