No paralogue variants have been mapped to residue 46 for KCNH2.
KCNH2 | ----------FIIANA-RVEN-CAVI-YCN>D<GFCELCGYSRAEVMQRPCTCDFLHGPRTQR | 76 |
KCNH1 | ----------FVLGNA-QIVD-WPIV-YSN>D<GFCKLSGYHRAEVMQKSSTCSFMYGELTDK | 77 |
KCNH3 | ----------FVLGNA-QVAGLFPVV-YCS>D<GFCDLTGFSRAEVMQRGCACSFLYGPDTSE | 77 |
KCNH4 | ----------FLLANA-QGTRGFPIV-YCS>D<GFCELTGYGRTEVMQKTCSCRFLYGPETSE | 77 |
KCNH5 | ----------FLLGNA-QIVD-WPVV-YSN>D<GFCKLSGYHRADVMQKSSTCSFMYGELTDK | 75 |
KCNH6 | ----------FLIANA-QMEN-CAII-YCN>D<GFCELFGYSRVEVMQQPCTCDFLTGPNTPS | 76 |
KCNH7 | ----------FIIANA-RVQN-CAII-YCN>D<GFCEMTGFSRPDVMQKPCTCDFLHGPETKR | 76 |
KCNH8 | ----------FILANA-QVAKGFPIV-YCS>D<GFCELAGFARTEVMQKSCSCKFLFGVETNE | 77 |
CNGA1 | --------I----------------R-RME>N<------------------------------ | 36 |
CNGA2 | ----------------------------NH>N<HHA------PPA-----------IKANGK- | 29 |
CNGA3 | --------L----------------KVKTS>D<-----------------------RDLNRA- | 28 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | MNSPSRRVLTWLMKGVEKVIP-QPVH-SIT>E<----------------DPAQILGHGSTGDT | 137 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | -----------------------------E>D<AEEEG-AGGRQDPSRRSIRLRPLPSPSPSA | 60 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D46E | c.138C>G | Putative Benign | SIFT: Polyphen: | ||
p.Asp46Asn | c.136G>A | Unknown | SIFT: Polyphen: |