No paralogue variants have been mapped to residue 706 for KCNH2.
| KCNH2 | QMLRVREFIRFHQIPNPLRQRLEEYFQHAW>S<YTNGIDMNAVLKGFPECLQADICLHLNRSL | 736 |
| KCNH1 | MLNSVRDFLKLYQVPKGLSERVMDYIVSTW>S<MSRGIDTEKVLQICPKDMRADICVHLNRKV | 575 |
| KCNH3 | RTRDLRDYIRIHRIPKPLKQRMLEYFQATW>A<VNNGIDTTELLQSLPDELRADIAMHLHKEV | 577 |
| KCNH4 | RMKDLKDFIRVHRLPRPLKQRMLEYFQTTW>A<VNSGIDANELLRDFPDELRADIAMHLNREI | 551 |
| KCNH5 | MLNNVRDFLKLYQVPKGLSERVMDYIVSTW>S<MSKGIDTEKVLSICPKDMRADICVHLNRKV | 544 |
| KCNH6 | QMLRVKEFIRFHQIPNPLRQRLEEYFQHAW>S<YTNGIDMNAVLKGFPECLQADICLHLHRAL | 588 |
| KCNH7 | QMLRVKEFIRFHQIPNPLRQRLEEYFQHAW>T<YTNGIDMNMVLKGFPECLQADICLHLNQTL | 739 |
| KCNH8 | RTKDLKDFIRVHHLPQQLKQRMLEYFQTTW>S<VNNGIDSNELLKDFPDELRSDITMHLNKEI | 546 |
| CNGA1 | RIDAIKQYMHFRNVSKDMEKRVIKWFDYLW>T<NKKTVDEKEVLKYLPDKLRAEIAINVHLDT | 473 |
| CNGA2 | KIDAVKHYMQFRKVSKGMEAKVIRWFDYLW>T<NKKTVDEREILKNLPAKLRAEIAINVHLST | 448 |
| CNGA3 | KIDSIKQYMQFRKVTKDLETRVIRWFDYLW>A<NKKTVDEKEVLKSLPDKLKAEIAINVHLDT | 476 |
| CNGA4 | DHALVKKYMKLQHVNRKLERRVIDWYQHLQ>I<NKKMTNEVAILQHLPERLRAEVAVSVHLST | 342 |
| CNGB1 | CMDSTVKYMNFYKIPKSVQNRVKTWYEYTW>H<SQGMLDESELMVQLPDKMRLDLAIDVNYNI | 956 |
| CNGB3 | CMDDTIAYMNNYSIPKLVQKRVRTWYEYTW>D<SQRMLDESDLLKTLPTTVQLALAIDVNFSI | 518 |
| HCN1 | KYKQVEQYMSFHKLPADMRQKIHDYYEHRY>Q<G-KIFDEENILNELNDPLREEIVNFNCRKL | 469 |
| HCN2 | KYKQVEQYMSFHKLPADFRQKIHDYYEHRY>Q<G-KMFDEDSILGELNGPLREEIVNFNCRKL | 538 |
| HCN3 | KYKQVEQYMSFHKLPADTRQRIHEYYEHRY>Q<G-KMFDEESILGELSEPLREEIINFTCRGL | 422 |
| HCN4 | KYKQVEQYMSFHKLPPDTRQRIHDYYEHRY>Q<G-KMFDEESILGELSEPLREEIINFNCRKL | 589 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S706C | c.2117C>G | Inherited Arrhythmia | LQTS | rs199472985 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. J Cardiovasc Electrophysiol. 2004 15(2):190-9. 15028050 | ||
| 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 | |||
| p.S706F | c.2117C>T | Other Cardiac Phenotype | rs199472985 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):511-23. 19843919 | |||