No paralogue variants have been mapped to residue 57 for KCNH2.
| KCNH2 | IIANA-RVEN-CAVI-YCNDGFCELCGYSR>A<EVMQRPCTCDFLHGPRTQRRAAAQ-IAQ-- | 84 |
| KCNH1 | VLGNA-QIVD-WPIV-YSNDGFCKLSGYHR>A<EVMQKSSTCSFMYGELTDKDTIEK-VRQ-- | 85 |
| KCNH3 | VLGNA-QVAGLFPVV-YCSDGFCDLTGFSR>A<EVMQRGCACSFLYGPDTSELVRQQ-IRK-- | 85 |
| KCNH4 | LLANA-QGTRGFPIV-YCSDGFCELTGYGR>T<EVMQKTCSCRFLYGPETSEPALQR-LHK-- | 85 |
| KCNH5 | LLGNA-QIVD-WPVV-YSNDGFCKLSGYHR>A<DVMQKSSTCSFMYGELTDKKTIEK-VRQ-- | 83 |
| KCNH6 | LIANA-QMEN-CAII-YCNDGFCELFGYSR>V<EVMQQPCTCDFLTGPNTPSSAVSR-LAQ-- | 84 |
| KCNH7 | IIANA-RVQN-CAII-YCNDGFCEMTGFSR>P<DVMQKPCTCDFLHGPETKRHDIAQ-IAQ-- | 84 |
| KCNH8 | ILANA-QVAKGFPIV-YCSDGFCELAGFAR>T<EVMQKSCSCKFLFGVETNEQLMLQ-IEK-- | 85 |
| CNGA1 | --------------R-RMEN---------->-<-----------------------G-ACS-- | 40 |
| CNGA2 | -----------------NHNHHA------P>P<A-----------IKANGK-DDHRT-SSR-- | 37 |
| CNGA3 | --------------KVKTSD---------->-<------------RDLNRA-EN--G-LSR-- | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | LMKGVEKVIP-QPVH-SITE---------->-<-----DPAQILGHGSTGDTGCTDE-PNE-- | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | ------------------EDAEEEG-AGGR>Q<DPSRRSIRLRPLPSPSPSAAAGGTESRSSA | 71 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A57P | c.169G>C | Inherited Arrhythmia | LQTS | rs199472846 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| p.Ala57Val | c.170C>T | Unknown | SIFT: Polyphen: | ||