No paralogue variants have been mapped to residue 989 for KCNH2.
KCNH2 | -------------------EKSSDTCNPLS>G<-AFSGVSNIFS------------------- | 999 |
KCNH1 | ------------------ECLGPKGGGGDC>A<K----RKSWAR------------------- | 839 |
KCNH3 | ------------------LRLPPMPWNVPP>D<LSPRVVDGIED------------------- | 830 |
KCNH4 | ------------------LLIPPLGTFGPP>D<LSPRIVDGIED------------------- | 833 |
KCNH5 | ------------------ADQKCLKVNSPI>R<MKNGNGKGWLR------------------- | 813 |
KCNH6 | ------------------LEQLQAQMNRLE>S<RVSSDLSRILQ------------------- | 849 |
KCNH7 | ------------------IDKRSHSCKDIT>D<MRSWERENAHP------------------- | 1002 |
KCNH8 | ------------------LQLSTLNNAGPP>D<LSPRIVDGIED------------------- | 819 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<--E--------------------------- | 563 |
CNGB1 | ------------------------------>-<------A----------------------- | 1180 |
CNGB3 | ------------------------------>-<------N----------------------- | 737 |
HCN1 | --SPCSYTTAVCSPPVQSPLAARTFHYASP>T<ASQLSLMQ---------------------- | 731 |
HCN2 | -RPPPGPAPAAASPG------------PPP>P<ASP--------------------------- | 780 |
HCN3 | -RSAWRSAGSPASPL------------VPV>R<AGPWASTS---------------------- | 669 |
HCN4 | ARSPQAAQPSPAPPGARGGLGLPEHFLPPP>P<SSRSPSSSPGQLGQPPGELSLGLATGPLST | 993 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G989S | c.2965G>A | Putative Benign | SIFT: Polyphen: |