No paralogue variants have been mapped to residue 270 for KCNH2.
KCNH2 | -PRAHSLNPDASGSS------CSL----AR>T<RSRESCASVRRASSADDIEAM--------R | 292 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ----------------------RY----GR>A<R----------------------------- | 159 |
KCNH4 | ----------------------SL----GR>R<G----------------------------- | 160 |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>-<------------------------------ | |
KCNH7 | KRQWDRLYPDMLQSS------SQL----SH>S<RSRESLCSIRRASSVHDIEGFGVHPKNIFR | 291 |
KCNH8 | ----------------------VK----GR>S<R----------------------------- | 155 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ---------DTLIVPSSASGTHRKKLPSED>D<EA-E---------ELKALSPAESPVVAWSD | 540 |
CNGB3 | -------------VP--------------->-<-------------EQKEMDPGKE------G | 110 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T270M | c.809C>T | Unknown | SIFT: deleterious Polyphen: possibly damaging |