No paralogue variants have been mapped to residue 764 for KCNH2.
| KCNH2 | RSLLQHCKPFRGATKGCLRALAMKFKTTHA>P<PGDTLVHAGDLLTALYFISRGSIEILRG-D | 793 |
| KCNH1 | RKVFKEHPAFRLASDGCLRALAMEFQTVHC>A<PGDLIYHAGESVDSLCFVVSGSLEVIQD-D | 632 |
| KCNH3 | KEVL-QLPLFEAASRGCLRALSLALRPAFC>T<PGEYLIHQGDALQALYFVCSGSMEVLKG-G | 633 |
| KCNH4 | REIL-QLPLFGAASRGCLRALSLHIKTSFC>A<PGEYLLRRGDALQAHYYVCSGSLEVLRD-N | 607 |
| KCNH5 | RKVFNEHPAFRLASDGCLRALAVEFQTIHC>A<PGDLIYHAGESVDALCFVVSGSLEVIQD-D | 601 |
| KCNH6 | RALLQHCPAFSGAGKGCLRALAVKFKTTHA>P<PGDTLVHLGDVLSTLYFISRGSIEILRD-D | 645 |
| KCNH7 | QTLLQNCKAFRGASKGCLRALAMKFKTTHA>P<PGDTLVHCGDVLTALYFLSRGSIEILKD-D | 796 |
| KCNH8 | KEIL-QLSLFECASRGCLRSLSLHIKTSFC>A<PGEYLLRQGDALQAIYFVCSGSMEVLKD-S | 602 |
| CNGA1 | LDTLKKVRIFADCEAGLLVELVLKLQPQVY>S<PGDYICKKGDIGREMYIIKEGKLAVVAD-D | 530 |
| CNGA2 | LSTLKKVRIFHDCEAGLLVELVLKLRPQVF>S<PGDYICRKGDIGKEMYIIKEGKLAVVAD-D | 505 |
| CNGA3 | LDTLKKVRIFQDCEAGLLVELVLKLRPTVF>S<PGDYICKKGDIGKEMYIINEGKLAVVAD-D | 533 |
| CNGA4 | LSTLSRVQIFQNCEASLLEELVLKLQPQTY>S<PGEYVCRKGDIGQEMYIIREGQLAVVAD-D | 399 |
| CNGB1 | YNIVSKVALFQGCDRQMIFDMLKRLRSVVY>L<PNDYVCKKGEIGREMYIIQAGQVQVLGGPD | 1014 |
| CNGB3 | FSIISKVDLFKGCDTQMIYDMLLRLKSVLY>L<PGDFVCKKGEIGKEMYIIKHGEVQVLGGPD | 576 |
| HCN1 | RKLVATMPLFANADPNFVTAMLSKLRFEVF>Q<PGDYIIREGAVGKKMYFIQHGVAGVITK-S | 526 |
| HCN2 | RKLVASMPLFANADPNFVTAMLTKLKFEVF>Q<PGDYIIREGTIGKKMYFIQHGVVSVLTK-G | 595 |
| HCN3 | RGLVAHMPLFAHADPSFVTAVLTKLRFEVF>Q<PGDLVVREGSVGRKMYFIQHGLLSVLAR-G | 479 |
| HCN4 | RKLVASMPLFANADPNFVTSMLTKLRFEVF>Q<PGDYIIREGTIGKKMYFIQHGVVSVLTK-G | 646 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P764L | c.2291C>T | 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 | ||