No paralogue variants have been mapped to residue 1115 for KCNH2.
| KCNH2 | TSPLL-----PVSPLP-TLTLDSLSQVSQF>M<ACEELPPGAPELPQ---------------- | 1129 |
| KCNH1 | LEVRH-----ELKEDIKALNAKMTNIEKQL>S<EILRILTSRRS------------------- | 963 |
| KCNH3 | PCPASTSGLLQPLCVDTGASSYCLQPPAGS>V<LSGTWPHPRPGPPPL--MAPWPWG------ | 978 |
| KCNH4 | PCPQL-----RP-----PCLSPCASRPPPS>L<QDTTLAEVH-CPASV--GTMETG------- | 968 |
| KCNH5 | QEVKH-----ELKEDIQLLSCRMTALEKQV>A<EILKILSEKSVPQ----------------- | 949 |
| KCNH6 | SEQEQ-----PEGLWP-PLASPLHPLEVQG>L<ICG--------------------------- | 960 |
| KCNH7 | ASIKT-----DRSFSPSSQCPEFLDLEKSK>L<KSKESLSSGVHLNTA--SEDNLTSL----- | 1143 |
| KCNH8 | PCLHL-----QTGGAAYTQAQLCSSNITSD>I<WSVDPSSVGSSPQRT--GAHEQNPADSELY | 986 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | EEGPA-----EPEEHSVRIC---------->-<------------------------------ | 1226 |
| CNGB3 | TVLPR-----GTSRQSLIIS---------->-<------------------------------ | 787 |
| HCN1 | -RST--------------VP-QRVTLFRQM>S<SGAIP------PNRGVPPAPP--------- | 861 |
| HCN2 | -ST-------------PRLG-P-------->-<--------TP-AARAAAPSPD--------- | 862 |
| HCN3 | -SE-------------R-LP-PSGLL---->-<--AKP------PRTAQPPRPP--------- | 758 |
| HCN4 | -GGLG-----PPGRPYGAIPGQHVTLPRKT>S<SGSLPPPLSLFGARATSSGGP--------- | 1178 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M1115V | c.3343A>G | Inherited Arrhythmia | LQTS | rs199473546 | 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 | ||