No paralogue variants have been mapped to residue 52 for KCNH2.
KCNH2 | ----FIIANA-RVEN-CAVI-YCNDGFCEL>C<GYSRAEVMQRPCTCDFLHGPRTQRRAAAQ- | 81 |
KCNH1 | ----FVLGNA-QIVD-WPIV-YSNDGFCKL>S<GYHRAEVMQKSSTCSFMYGELTDKDTIEK- | 82 |
KCNH3 | ----FVLGNA-QVAGLFPVV-YCSDGFCDL>T<GFSRAEVMQRGCACSFLYGPDTSELVRQQ- | 82 |
KCNH4 | ----FLLANA-QGTRGFPIV-YCSDGFCEL>T<GYGRTEVMQKTCSCRFLYGPETSEPALQR- | 82 |
KCNH5 | ----FLLGNA-QIVD-WPVV-YSNDGFCKL>S<GYHRADVMQKSSTCSFMYGELTDKKTIEK- | 80 |
KCNH6 | ----FLIANA-QMEN-CAII-YCNDGFCEL>F<GYSRVEVMQQPCTCDFLTGPNTPSSAVSR- | 81 |
KCNH7 | ----FIIANA-RVQN-CAII-YCNDGFCEM>T<GFSRPDVMQKPCTCDFLHGPETKRHDIAQ- | 81 |
KCNH8 | ----FILANA-QVAKGFPIV-YCSDGFCEL>A<GFARTEVMQKSCSCKFLFGVETNEQLMLQ- | 82 |
CNGA1 | --I----------------R-RMEN----->-<----------------------------G- | 37 |
CNGA2 | ----------------------NHNHHA-->-<---PPA-----------IKANGK-DDHRT- | 34 |
CNGA3 | --L----------------KVKTSD----->-<-----------------RDLNRA-EN--G- | 31 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | RVLTWLMKGVEKVIP-QPVH-SITE----->-<----------DPAQILGHGSTGDTGCTDE- | 142 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | -----------------------EDAEEEG>-<AGGRQDPSRRSIRLRPLPSPSPSAAAGGTE | 66 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C52W | c.156C>G | Putative Benign | SIFT: Polyphen: |