No paralogue variants have been mapped to residue 1139 for KCNH2.
| KCNH2 | -------------EG--------PTRRLSL>P<GQL---GALTSQP-LHRHGSDPG------- | 1158 |
| KCNH1 | ------------------------------>S<QSP---QELFEISRPQSPESERDIFGA--- | 988 |
| KCNH3 | ASGDLCSEPSTPAS-------PPPSEEGAR>-<TGP---AEPVSQAEATSTGEPPPGSGGLAL | 1053 |
| KCNH4 | EPDPLG---------------PSPVPEASP>P<TPS---LLRHSFQSRSDTF----------- | 1016 |
| KCNH5 | --------ASSPKSQM------PLQVP--P>Q<IPC---QDIFSVSRPESPESDKDEIH---- | 987 |
| KCNH6 | -----------------------P-CFSSL>P<EHL---GSVPKQLDFQRHGSDPGFAGSWG- | 993 |
| KCNH7 | LSLELHLRQRKTYVH--------PIRHPSL>P<DSS---LSTVGIVGLHRHVSDPGLPG---- | 1195 |
| KCNH8 | ISATLSSSVCSSSETSLHLVLPSRSEEGSF>S<QGT---VSSFSLENLPGSWNQEGMASASTK | 1083 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ----------------------------MS>P<GPEPGEQILSVKMPEEREE-KAE------- | 1251 |
| CNGB3 | ----------------------------MA>P<SAEGGEEVLTIEVKEKAKQ----------- | 809 |
| HCN1 | ----------PP--------------AAAL>P<RES---SSVLNTD-P-DAEKP-RFASN--- | 889 |
| HCN2 | ----------RR--------------DSAS>P<GAA---GG---LD-PQDSARS-RLSSN--- | 888 |
| HCN3 | ----------VP--------------EPAT>P<------------------RGL-QLSAN--- | 773 |
| HCN4 | -----------P--------------LTAG>P<QRE---PG---AR-P-EPVRS-KLPSN--- | 1202 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1139L | c.3416C>T | Unknown | SIFT: Polyphen: | ||
| Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||