No paralogue variants have been mapped to residue 39 for KCNH2.
| KCNH2 | FEGQSRK-----------FIIANA-RVEN->C<AVI-YCNDGFCELCGYSRAEVMQRPCTCDF | 68 |
| KCNH1 | S--NDTN-----------FVLGNA-QIVD->W<PIV-YSNDGFCKLSGYHRAEVMQKSSTCSF | 69 |
| KCNH3 | FDGTHSN-----------FVLGNA-QVAGL>F<PVV-YCSDGFCDLTGFSRAEVMQRGCACSF | 69 |
| KCNH4 | FDGTHSN-----------FLLANA-QGTRG>F<PIV-YCSDGFCELTGYGRTEVMQKTCSCRF | 69 |
| KCNH5 | S--SESS-----------FLLGNA-QIVD->W<PVV-YSNDGFCKLSGYHRADVMQKSSTCSF | 67 |
| KCNH6 | FEGQSRK-----------FLIANA-QMEN->C<AII-YCNDGFCELFGYSRVEVMQQPCTCDF | 68 |
| KCNH7 | FEGQNKK-----------FIIANA-RVQN->C<AII-YCNDGFCEMTGFSRPDVMQKPCTCDF | 68 |
| KCNH8 | FDGTHSN-----------FILANA-QVAKG>F<PIV-YCSDGFCELAGFARTEVMQKSCSCKF | 69 |
| CNGA1 | IEKE------------I------------->-<--R-RMEN---------------------- | 36 |
| CNGA2 | N----------------------------->-<-----NHNHHA------PPA---------- | 23 |
| CNGA3 | RTH-------------L------------->-<--KVKTSD---------------------- | 22 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | AQGAEISEMNSPSRRVLTWLMKGVEKVIP->Q<PVH-SITE----------------DPAQIL | 129 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | GKPNS------------------------->-<------------------------------ | 9 |
| HCN2 | GRPGE------------------------->-<------------------------------ | 12 |
| HCN3 | QRPAA------------------------->-<------------------------------ | 9 |
| HCN4 | IMDEE------------------------->-<------EDAEEEG-AGGRQDPSRRSIRLRP | 52 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C39R | c.115T>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487 | ||