No paralogue variants have been mapped to residue 979 for KCNH2.
KCNH2 | -----------------------------E>K<SSDTCNPLSG-AFSGVSNIFS--------- | 999 |
KCNH1 | ----------------------------EC>L<GPKGGGGDCAK----RKSWAR--------- | 839 |
KCNH3 | ----------------------------LR>L<PPMPWNVPPDLSPRVVDGIED--------- | 830 |
KCNH4 | ----------------------------LL>I<PPLGTFGPPDLSPRIVDGIED--------- | 833 |
KCNH5 | ----------------------------AD>Q<KCLKVNSPIRMKNGNGKGWLR--------- | 813 |
KCNH6 | ----------------------------LE>Q<LQAQMNRLESRVSSDLSRILQ--------- | 849 |
KCNH7 | ----------------------------ID>K<RSHSCKDITDMRSWERENAHP--------- | 1002 |
KCNH8 | ----------------------------LQ>L<STLNNAGPPDLSPRIVDGIED--------- | 819 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------E----------------- | 563 |
CNGB1 | ------------------------------>-<----------------A------------- | 1180 |
CNGB3 | ------------------------------>-<----------------N------------- | 737 |
HCN1 | ------------SPCSYTTAVCSPPVQSPL>A<ARTFHYASPTASQLSLMQ------------ | 731 |
HCN2 | -----------RPPPGPAPAAASPG----->-<------PPPPASP----------------- | 780 |
HCN3 | -----------RSAWRSAGSPASPL----->-<------VPVRAGPWASTS------------ | 669 |
HCN4 | SPLLTPLQPGARSPQAAQPSPAPPGARGGL>G<LPEHFLPPPPSSRSPSSSPGQLGQPPGELS | 983 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K979R | c.2936A>G | Putative Benign | SIFT: Polyphen: |