No paralogue variants have been mapped to residue 753 for KCNH2.
| KCNH2 | CLQADICLHLNRSLLQHCKPFRGATKGCLR>A<LAMKFKTTHAPPGDTLVHAGDLLTALYFIS | 783 |
| KCNH1 | DMRADICVHLNRKVFKEHPAFRLASDGCLR>A<LAMEFQTVHCAPGDLIYHAGESVDSLCFVV | 622 |
| KCNH3 | ELRADIAMHLHKEVL-QLPLFEAASRGCLR>A<LSLALRPAFCTPGEYLIHQGDALQALYFVC | 623 |
| KCNH4 | ELRADIAMHLNREIL-QLPLFGAASRGCLR>A<LSLHIKTSFCAPGEYLLRRGDALQAHYYVC | 597 |
| KCNH5 | DMRADICVHLNRKVFNEHPAFRLASDGCLR>A<LAVEFQTIHCAPGDLIYHAGESVDALCFVV | 591 |
| KCNH6 | CLQADICLHLHRALLQHCPAFSGAGKGCLR>A<LAVKFKTTHAPPGDTLVHLGDVLSTLYFIS | 635 |
| KCNH7 | CLQADICLHLNQTLLQNCKAFRGASKGCLR>A<LAMKFKTTHAPPGDTLVHCGDVLTALYFLS | 786 |
| KCNH8 | ELRSDITMHLNKEIL-QLSLFECASRGCLR>S<LSLHIKTSFCAPGEYLLRQGDALQAIYFVC | 592 |
| CNGA1 | KLRAEIAINVHLDTLKKVRIFADCEAGLLV>E<LVLKLQPQVYSPGDYICKKGDIGREMYIIK | 520 |
| CNGA2 | KLRAEIAINVHLSTLKKVRIFHDCEAGLLV>E<LVLKLRPQVFSPGDYICRKGDIGKEMYIIK | 495 |
| CNGA3 | KLKAEIAINVHLDTLKKVRIFQDCEAGLLV>E<LVLKLRPTVFSPGDYICKKGDIGKEMYIIN | 523 |
| CNGA4 | RLRAEVAVSVHLSTLSRVQIFQNCEASLLE>E<LVLKLQPQTYSPGEYVCRKGDIGQEMYIIR | 389 |
| CNGB1 | KMRLDLAIDVNYNIVSKVALFQGCDRQMIF>D<MLKRLRSVVYLPNDYVCKKGEIGREMYIIQ | 1003 |
| CNGB3 | TVQLALAIDVNFSIISKVDLFKGCDTQMIY>D<MLLRLKSVLYLPGDFVCKKGEIGKEMYIIK | 565 |
| HCN1 | PLREEIVNFNCRKLVATMPLFANADPNFVT>A<MLSKLRFEVFQPGDYIIREGAVGKKMYFIQ | 516 |
| HCN2 | PLREEIVNFNCRKLVASMPLFANADPNFVT>A<MLTKLKFEVFQPGDYIIREGTIGKKMYFIQ | 585 |
| HCN3 | PLREEIINFTCRGLVAHMPLFAHADPSFVT>A<VLTKLRFEVFQPGDLVVREGSVGRKMYFIQ | 469 |
| HCN4 | PLREEIINFNCRKLVASMPLFANADPNFVT>S<MLTKLRFEVFQPGDYIIREGTIGKKMYFIQ | 636 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A753S | c.2257G>T | Inherited Arrhythmia | LQTS | rs199472991 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | [DNA-based diagnostics of long QT syndrome]. Tidsskr Nor Laegeforen. 2005 125(20):2783-6. 16244680 | ||
| Inherited Arrhythmia | LQTS | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | |||