No paralogue variants have been mapped to residue 732 for KCNH2.
| KCNH2 | QHAWSYTNGIDMNAVLKGFPECLQADICLH>L<NRSLLQHCKPFRGATKGCLRALAMKFKTTH | 762 |
| KCNH1 | VSTWSMSRGIDTEKVLQICPKDMRADICVH>L<NRKVFKEHPAFRLASDGCLRALAMEFQTVH | 601 |
| KCNH3 | QATWAVNNGIDTTELLQSLPDELRADIAMH>L<HKEVL-QLPLFEAASRGCLRALSLALRPAF | 602 |
| KCNH4 | QTTWAVNSGIDANELLRDFPDELRADIAMH>L<NREIL-QLPLFGAASRGCLRALSLHIKTSF | 576 |
| KCNH5 | VSTWSMSKGIDTEKVLSICPKDMRADICVH>L<NRKVFNEHPAFRLASDGCLRALAVEFQTIH | 570 |
| KCNH6 | QHAWSYTNGIDMNAVLKGFPECLQADICLH>L<HRALLQHCPAFSGAGKGCLRALAVKFKTTH | 614 |
| KCNH7 | QHAWTYTNGIDMNMVLKGFPECLQADICLH>L<NQTLLQNCKAFRGASKGCLRALAMKFKTTH | 765 |
| KCNH8 | QTTWSVNNGIDSNELLKDFPDELRSDITMH>L<NKEIL-QLSLFECASRGCLRSLSLHIKTSF | 571 |
| CNGA1 | DYLWTNKKTVDEKEVLKYLPDKLRAEIAIN>V<HLDTLKKVRIFADCEAGLLVELVLKLQPQV | 499 |
| CNGA2 | DYLWTNKKTVDEREILKNLPAKLRAEIAIN>V<HLSTLKKVRIFHDCEAGLLVELVLKLRPQV | 474 |
| CNGA3 | DYLWANKKTVDEKEVLKSLPDKLKAEIAIN>V<HLDTLKKVRIFQDCEAGLLVELVLKLRPTV | 502 |
| CNGA4 | QHLQINKKMTNEVAILQHLPERLRAEVAVS>V<HLSTLSRVQIFQNCEASLLEELVLKLQPQT | 368 |
| CNGB1 | EYTWHSQGMLDESELMVQLPDKMRLDLAID>V<NYNIVSKVALFQGCDRQMIFDMLKRLRSVV | 982 |
| CNGB3 | EYTWDSQRMLDESDLLKTLPTTVQLALAID>V<NFSIISKVDLFKGCDTQMIYDMLLRLKSVL | 544 |
| HCN1 | EHRYQG-KIFDEENILNELNDPLREEIVNF>N<CRKLVATMPLFANADPNFVTAMLSKLRFEV | 495 |
| HCN2 | EHRYQG-KMFDEDSILGELNGPLREEIVNF>N<CRKLVASMPLFANADPNFVTAMLTKLKFEV | 564 |
| HCN3 | EHRYQG-KMFDEESILGELSEPLREEIINF>T<CRGLVAHMPLFAHADPSFVTAVLTKLRFEV | 448 |
| HCN4 | EHRYQG-KMFDEESILGELSEPLREEIINF>N<CRKLVASMPLFANADPNFVTSMLTKLRFEV | 615 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L732P | c.2195T>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||