No paralogue variants have been mapped to residue 61 for KCNH2.
| KCNH2 | A-RVEN-CAVI-YCNDGFCELCGYSRAEVM>Q<RPCTCDFLHGPRTQRRAAAQ-IAQ------ | 84 |
| KCNH1 | A-QIVD-WPIV-YSNDGFCKLSGYHRAEVM>Q<KSSTCSFMYGELTDKDTIEK-VRQ------ | 85 |
| KCNH3 | A-QVAGLFPVV-YCSDGFCDLTGFSRAEVM>Q<RGCACSFLYGPDTSELVRQQ-IRK------ | 85 |
| KCNH4 | A-QGTRGFPIV-YCSDGFCELTGYGRTEVM>Q<KTCSCRFLYGPETSEPALQR-LHK------ | 85 |
| KCNH5 | A-QIVD-WPVV-YSNDGFCKLSGYHRADVM>Q<KSSTCSFMYGELTDKKTIEK-VRQ------ | 83 |
| KCNH6 | A-QMEN-CAII-YCNDGFCELFGYSRVEVM>Q<QPCTCDFLTGPNTPSSAVSR-LAQ------ | 84 |
| KCNH7 | A-RVQN-CAII-YCNDGFCEMTGFSRPDVM>Q<KPCTCDFLHGPETKRHDIAQ-IAQ------ | 84 |
| KCNH8 | A-QVAKGFPIV-YCSDGFCELAGFARTEVM>Q<KSCSCKFLFGVETNEQLMLQ-IEK------ | 85 |
| CNGA1 | ----------R-RMEN-------------->-<-------------------G-ACS------ | 40 |
| CNGA2 | -------------NHNHHA------PPA-->-<--------IKANGK-DDHRT-SSR------ | 37 |
| CNGA3 | ----------KVKTSD-------------->-<--------RDLNRA-EN--G-LSR------ | 34 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | VEKVIP-QPVH-SITE-------------->-<-DPAQILGHGSTGDTGCTDE-PNE------ | 145 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<------------------------------ | |
| HCN2 | ------------------------------>-<------------------------------ | |
| HCN3 | ------------------------------>-<------------------------------ | |
| HCN4 | --------------EDAEEEG-AGGRQDPS>R<RSIRLRPLPSPSPSAAAGGTESRSSALGAA | 75 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q61R | c.182A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067 | ||