No paralogue variants have been mapped to residue 1122 for KCNH2.
| KCNH2 | ---PVSPLP-TLTLDSLSQVSQFMACEELP>P<GAPELPQ----------------------- | 1129 |
| KCNH1 | ---ELKEDIKALNAKMTNIEKQLSEILRIL>T<SRRS-------------------------- | 963 |
| KCNH3 | GLLQPLCVDTGASSYCLQPPAGSVLSGTWP>H<PRPGPPPL--MAPWPWG-------PPASQS | 984 |
| KCNH4 | ---RP-----PCLSPCASRPPPSLQDTTLA>E<VH-CPASV--GTMETG--------TALLDL | 974 |
| KCNH5 | ---ELKEDIQLLSCRMTALEKQVAEILKIL>S<EKSVPQ------------------------ | 949 |
| KCNH6 | ---PEGLWP-PLASPLHPLEVQGLICG--->-<------------------------------ | 960 |
| KCNH7 | ---DRSFSPSSQCPEFLDLEKSKLKSKESL>S<SGVHLNTA--SEDNLTSL------------ | 1143 |
| KCNH8 | ---QTGGAAYTQAQLCSSNITSDIWSVDPS>S<VGSSPQRT--GAHEQNPADSELYHSPSLDY | 993 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ---EPEEHSVRIC----------------->-<------------------------------ | 1226 |
| CNGB3 | ---GTSRQSLIIS----------------->-<------------------------------ | 787 |
| HCN1 | -----------VP-QRVTLFRQMSSGAIP->-<----PNRGVPPAPP---------------- | 861 |
| HCN2 | ---------PRLG-P--------------->-<-TP-AARAAAPSPD---------------- | 862 |
| HCN3 | ---------R-LP-PSGLL-------AKP->-<----PRTAQPPRPP---------------- | 758 |
| HCN4 | ---PPGRPYGAIPGQHVTLPRKTSSGSLPP>P<LSLFGARATSSGGP---------------- | 1178 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1122R | c.3365C>G | 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 | ||
| p.P1122L | c.3365C>T | Putative Benign | SIFT: Polyphen: | ||