No paralogue variants have been mapped to residue 63 for KCNH2.
| KCNH2 | RVEN-CAVI-YCNDGFCELCGYSRAEVMQR>P<CTCDFLHGPRTQRRAAAQ-IAQ-------- | 84 |
| KCNH1 | QIVD-WPIV-YSNDGFCKLSGYHRAEVMQK>S<STCSFMYGELTDKDTIEK-VRQ-------- | 85 |
| KCNH3 | QVAGLFPVV-YCSDGFCDLTGFSRAEVMQR>G<CACSFLYGPDTSELVRQQ-IRK-------- | 85 |
| KCNH4 | QGTRGFPIV-YCSDGFCELTGYGRTEVMQK>T<CSCRFLYGPETSEPALQR-LHK-------- | 85 |
| KCNH5 | QIVD-WPVV-YSNDGFCKLSGYHRADVMQK>S<STCSFMYGELTDKKTIEK-VRQ-------- | 83 |
| KCNH6 | QMEN-CAII-YCNDGFCELFGYSRVEVMQQ>P<CTCDFLTGPNTPSSAVSR-LAQ-------- | 84 |
| KCNH7 | RVQN-CAII-YCNDGFCEMTGFSRPDVMQK>P<CTCDFLHGPETKRHDIAQ-IAQ-------- | 84 |
| KCNH8 | QVAKGFPIV-YCSDGFCELAGFARTEVMQK>S<CSCKFLFGVETNEQLMLQ-IEK-------- | 85 |
| CNGA1 | --------R-RMEN---------------->-<-----------------G-ACS-------- | 40 |
| CNGA2 | -----------NHNHHA------PPA---->-<------IKANGK-DDHRT-SSR-------- | 37 |
| CNGA3 | --------KVKTSD---------------->-<------RDLNRA-EN--G-LSR-------- | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | KVIP-QPVH-SITE---------------->D<PAQILGHGSTGDTGCTDE-PNE-------- | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | ------------EDAEEEG-AGGRQDPSRR>S<IRLRPLPSPSPSAAAGGTESRSSALGAADS | 77 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P63H | c.188C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||