No paralogue variants have been mapped to residue 756 for KCNH2.
| KCNH2 | ADICLHLNRSLLQHCKPFRGATKGCLRALA>M<KFKTTHAPPGDTLVHAGDLLTALYFISRGS | 786 |
| KCNH1 | ADICVHLNRKVFKEHPAFRLASDGCLRALA>M<EFQTVHCAPGDLIYHAGESVDSLCFVVSGS | 625 |
| KCNH3 | ADIAMHLHKEVL-QLPLFEAASRGCLRALS>L<ALRPAFCTPGEYLIHQGDALQALYFVCSGS | 626 |
| KCNH4 | ADIAMHLNREIL-QLPLFGAASRGCLRALS>L<HIKTSFCAPGEYLLRRGDALQAHYYVCSGS | 600 |
| KCNH5 | ADICVHLNRKVFNEHPAFRLASDGCLRALA>V<EFQTIHCAPGDLIYHAGESVDALCFVVSGS | 594 |
| KCNH6 | ADICLHLHRALLQHCPAFSGAGKGCLRALA>V<KFKTTHAPPGDTLVHLGDVLSTLYFISRGS | 638 |
| KCNH7 | ADICLHLNQTLLQNCKAFRGASKGCLRALA>M<KFKTTHAPPGDTLVHCGDVLTALYFLSRGS | 789 |
| KCNH8 | SDITMHLNKEIL-QLSLFECASRGCLRSLS>L<HIKTSFCAPGEYLLRQGDALQAIYFVCSGS | 595 |
| CNGA1 | AEIAINVHLDTLKKVRIFADCEAGLLVELV>L<KLQPQVYSPGDYICKKGDIGREMYIIKEGK | 523 |
| CNGA2 | AEIAINVHLSTLKKVRIFHDCEAGLLVELV>L<KLRPQVFSPGDYICRKGDIGKEMYIIKEGK | 498 |
| CNGA3 | AEIAINVHLDTLKKVRIFQDCEAGLLVELV>L<KLRPTVFSPGDYICKKGDIGKEMYIINEGK | 526 |
| CNGA4 | AEVAVSVHLSTLSRVQIFQNCEASLLEELV>L<KLQPQTYSPGEYVCRKGDIGQEMYIIREGQ | 392 |
| CNGB1 | LDLAIDVNYNIVSKVALFQGCDRQMIFDML>K<RLRSVVYLPNDYVCKKGEIGREMYIIQAGQ | 1006 |
| CNGB3 | LALAIDVNFSIISKVDLFKGCDTQMIYDML>L<RLKSVLYLPGDFVCKKGEIGKEMYIIKHGE | 568 |
| HCN1 | EEIVNFNCRKLVATMPLFANADPNFVTAML>S<KLRFEVFQPGDYIIREGAVGKKMYFIQHGV | 519 |
| HCN2 | EEIVNFNCRKLVASMPLFANADPNFVTAML>T<KLKFEVFQPGDYIIREGTIGKKMYFIQHGV | 588 |
| HCN3 | EEIINFTCRGLVAHMPLFAHADPSFVTAVL>T<KLRFEVFQPGDLVVREGSVGRKMYFIQHGL | 472 |
| HCN4 | EEIINFNCRKLVASMPLFANADPNFVTSML>T<KLRFEVFQPGDYIIREGTIGKKMYFIQHGV | 639 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M756V | c.2266A>G | Other Cardiac Phenotype | rs199473534 | SIFT: tolerated Polyphen: benign | |
| Reports | Other Cardiac Phenotype | Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):511-23. 19843919 | |||
| Other Cardiac Phenotype | 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 | ||||