No paralogue variants have been mapped to residue 1003 for KCNH2.
| KCNH2 | FS-------------------------FWG>D<S---R----G-------------------- | 1006 |
| KCNH1 | AR-------------------------FKD>A<C---G------------------------- | 845 |
| KCNH3 | ED-------------------------GCG>S<D---Q------------------------- | 836 |
| KCNH4 | ED-------------------------SGS>T<A---E----A-------------------- | 840 |
| KCNH5 | LR-------------------------LKN>N<M---G----A-------------------- | 820 |
| KCNH6 | LQ-------------------------LLQ>K<P---M----P-------------------- | 856 |
| KCNH7 | HP-------------------------QPE>D<S---S----P-------------------- | 1009 |
| KCNH8 | ED-------------------------GNS>S<E---E----S-------------------- | 826 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ---------------------------TDP>P<A----------------------------- | 1185 |
| CNGB3 | ---------------------------EDK>D<K----------------------------- | 742 |
| HCN1 | --------------------------QQPQ>-<-------------------QQ--------- | 737 |
| HCN2 | ----------------------------PG>-<-------------------A-P-------- | 784 |
| HCN3 | --------------------------RLPA>-<-------------------PP--------- | 675 |
| HCN4 | GQLGQPPGELSLGLATGPLSTPETPPRQPE>P<PSLVAGASGGASPVGFTPRGGLSPPGHSPG | 1033 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1003N | c.3007G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J. 2016 37(18):1456-64. doi: 10.1093/eurheartj/ehv695. 26715165 | ||
| p.Asp1003Tyr | c.3007G>T | Unknown | SIFT: Polyphen: | ||