No paralogue variants have been mapped to residue 744 for KCNH2.
| KCNH2 | NAVLKGFPECLQADICLHLNRSLLQHCKPF>R<GATKGCLRALAMKFKTTHAPPGDTLVHAGD | 774 |
| KCNH1 | EKVLQICPKDMRADICVHLNRKVFKEHPAF>R<LASDGCLRALAMEFQTVHCAPGDLIYHAGE | 613 |
| KCNH3 | TELLQSLPDELRADIAMHLHKEVL-QLPLF>E<AASRGCLRALSLALRPAFCTPGEYLIHQGD | 614 |
| KCNH4 | NELLRDFPDELRADIAMHLNREIL-QLPLF>G<AASRGCLRALSLHIKTSFCAPGEYLLRRGD | 588 |
| KCNH5 | EKVLSICPKDMRADICVHLNRKVFNEHPAF>R<LASDGCLRALAVEFQTIHCAPGDLIYHAGE | 582 |
| KCNH6 | NAVLKGFPECLQADICLHLHRALLQHCPAF>S<GAGKGCLRALAVKFKTTHAPPGDTLVHLGD | 626 |
| KCNH7 | NMVLKGFPECLQADICLHLNQTLLQNCKAF>R<GASKGCLRALAMKFKTTHAPPGDTLVHCGD | 777 |
| KCNH8 | NELLKDFPDELRSDITMHLNKEIL-QLSLF>E<CASRGCLRSLSLHIKTSFCAPGEYLLRQGD | 583 |
| CNGA1 | KEVLKYLPDKLRAEIAINVHLDTLKKVRIF>A<DCEAGLLVELVLKLQPQVYSPGDYICKKGD | 511 |
| CNGA2 | REILKNLPAKLRAEIAINVHLSTLKKVRIF>H<DCEAGLLVELVLKLRPQVFSPGDYICRKGD | 486 |
| CNGA3 | KEVLKSLPDKLKAEIAINVHLDTLKKVRIF>Q<DCEAGLLVELVLKLRPTVFSPGDYICKKGD | 514 |
| CNGA4 | VAILQHLPERLRAEVAVSVHLSTLSRVQIF>Q<NCEASLLEELVLKLQPQTYSPGEYVCRKGD | 380 |
| CNGB1 | SELMVQLPDKMRLDLAIDVNYNIVSKVALF>Q<GCDRQMIFDMLKRLRSVVYLPNDYVCKKGE | 994 |
| CNGB3 | SDLLKTLPTTVQLALAIDVNFSIISKVDLF>K<GCDTQMIYDMLLRLKSVLYLPGDFVCKKGE | 556 |
| HCN1 | ENILNELNDPLREEIVNFNCRKLVATMPLF>A<NADPNFVTAMLSKLRFEVFQPGDYIIREGA | 507 |
| HCN2 | DSILGELNGPLREEIVNFNCRKLVASMPLF>A<NADPNFVTAMLTKLKFEVFQPGDYIIREGT | 576 |
| HCN3 | ESILGELSEPLREEIINFTCRGLVAHMPLF>A<HADPSFVTAVLTKLRFEVFQPGDLVVREGS | 460 |
| HCN4 | ESILGELSEPLREEIINFNCRKLVASMPLF>A<NADPNFVTSMLTKLRFEVFQPGDYIIREGT | 627 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R744P | c.2231G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2. Biochem Biophys Res Commun. 2012 418(4):830-5. 22314138 | ||
| p.R744G | c.2230C>G | Putative Benign | rs189014161 | SIFT: deleterious Polyphen: probably damaging | |
| p.R744Q | c.2231G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. JAMA. 2016 315(1):47-57. doi: 10.1001/jama.2015.17701. 26746457 | ||