No paralogue variants have been mapped to residue 73 for KCNH2.
KCNH2 | YCNDGFCELCGYSRAEVMQRPCTCDFLHGP>R<TQRRAAAQ-IAQ------------------ | 84 |
KCNH1 | YSNDGFCKLSGYHRAEVMQKSSTCSFMYGE>L<TDKDTIEK-VRQ------------------ | 85 |
KCNH3 | YCSDGFCDLTGFSRAEVMQRGCACSFLYGP>D<TSELVRQQ-IRK------------------ | 85 |
KCNH4 | YCSDGFCELTGYGRTEVMQKTCSCRFLYGP>E<TSEPALQR-LHK------------------ | 85 |
KCNH5 | YSNDGFCKLSGYHRADVMQKSSTCSFMYGE>L<TDKKTIEK-VRQ------------------ | 83 |
KCNH6 | YCNDGFCELFGYSRVEVMQQPCTCDFLTGP>N<TPSSAVSR-LAQ------------------ | 84 |
KCNH7 | YCNDGFCEMTGFSRPDVMQKPCTCDFLHGP>E<TKRHDIAQ-IAQ------------------ | 84 |
KCNH8 | YCSDGFCELAGFARTEVMQKSCSCKFLFGV>E<TNEQLMLQ-IEK------------------ | 85 |
CNGA1 | RMEN-------------------------->-<-------G-ACS------------------ | 40 |
CNGA2 | -NHNHHA------PPA-----------IKA>N<GK-DDHRT-SSR------------------ | 37 |
CNGA3 | KTSD-----------------------RDL>N<RA-EN--G-LSR------------------ | 34 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | SITE----------------DPAQILGHGS>T<GDTGCTDE-PNE------------------ | 145 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | --EDAEEEG-AGGRQDPSRRSIRLRPLPSP>S<PSAAAGGTESRSSALGAADSEGPARGAGKS | 87 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R73C | c.217C>T | Putative Benign | SIFT: Polyphen: |