No paralogue variants have been mapped to residue 735 for KCNH2.
| KCNH2 | WSYTNGIDMNAVLKGFPECLQADICLHLNR>S<LLQHCKPFRGATKGCLRALAMKFKTTHAPP | 765 |
| KCNH1 | WSMSRGIDTEKVLQICPKDMRADICVHLNR>K<VFKEHPAFRLASDGCLRALAMEFQTVHCAP | 604 |
| KCNH3 | WAVNNGIDTTELLQSLPDELRADIAMHLHK>E<VL-QLPLFEAASRGCLRALSLALRPAFCTP | 605 |
| KCNH4 | WAVNSGIDANELLRDFPDELRADIAMHLNR>E<IL-QLPLFGAASRGCLRALSLHIKTSFCAP | 579 |
| KCNH5 | WSMSKGIDTEKVLSICPKDMRADICVHLNR>K<VFNEHPAFRLASDGCLRALAVEFQTIHCAP | 573 |
| KCNH6 | WSYTNGIDMNAVLKGFPECLQADICLHLHR>A<LLQHCPAFSGAGKGCLRALAVKFKTTHAPP | 617 |
| KCNH7 | WTYTNGIDMNMVLKGFPECLQADICLHLNQ>T<LLQNCKAFRGASKGCLRALAMKFKTTHAPP | 768 |
| KCNH8 | WSVNNGIDSNELLKDFPDELRSDITMHLNK>E<IL-QLSLFECASRGCLRSLSLHIKTSFCAP | 574 |
| CNGA1 | WTNKKTVDEKEVLKYLPDKLRAEIAINVHL>D<TLKKVRIFADCEAGLLVELVLKLQPQVYSP | 502 |
| CNGA2 | WTNKKTVDEREILKNLPAKLRAEIAINVHL>S<TLKKVRIFHDCEAGLLVELVLKLRPQVFSP | 477 |
| CNGA3 | WANKKTVDEKEVLKSLPDKLKAEIAINVHL>D<TLKKVRIFQDCEAGLLVELVLKLRPTVFSP | 505 |
| CNGA4 | QINKKMTNEVAILQHLPERLRAEVAVSVHL>S<TLSRVQIFQNCEASLLEELVLKLQPQTYSP | 371 |
| CNGB1 | WHSQGMLDESELMVQLPDKMRLDLAIDVNY>N<IVSKVALFQGCDRQMIFDMLKRLRSVVYLP | 985 |
| CNGB3 | WDSQRMLDESDLLKTLPTTVQLALAIDVNF>S<IISKVDLFKGCDTQMIYDMLLRLKSVLYLP | 547 |
| HCN1 | YQG-KIFDEENILNELNDPLREEIVNFNCR>K<LVATMPLFANADPNFVTAMLSKLRFEVFQP | 498 |
| HCN2 | YQG-KMFDEDSILGELNGPLREEIVNFNCR>K<LVASMPLFANADPNFVTAMLTKLKFEVFQP | 567 |
| HCN3 | YQG-KMFDEESILGELSEPLREEIINFTCR>G<LVAHMPLFAHADPSFVTAVLTKLRFEVFQP | 451 |
| HCN4 | YQG-KMFDEESILGELSEPLREEIINFNCR>K<LVASMPLFANADPNFVTSMLTKLRFEVFQP | 618 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S735L | c.2204C>T | Inherited Arrhythmia | LQTS | rs199472988 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4. 16379539 | ||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||