No paralogue variants have been mapped to residue 715 for KCNH2.
| KCNH2 | RFHQIPNPLRQRLEEYFQHAWSYTNGIDMN>A<VLKGFPECLQADICLHLNRSLLQHCKPFRG | 745 |
| KCNH1 | KLYQVPKGLSERVMDYIVSTWSMSRGIDTE>K<VLQICPKDMRADICVHLNRKVFKEHPAFRL | 584 |
| KCNH3 | RIHRIPKPLKQRMLEYFQATWAVNNGIDTT>E<LLQSLPDELRADIAMHLHKEVL-QLPLFEA | 585 |
| KCNH4 | RVHRLPRPLKQRMLEYFQTTWAVNSGIDAN>E<LLRDFPDELRADIAMHLNREIL-QLPLFGA | 559 |
| KCNH5 | KLYQVPKGLSERVMDYIVSTWSMSKGIDTE>K<VLSICPKDMRADICVHLNRKVFNEHPAFRL | 553 |
| KCNH6 | RFHQIPNPLRQRLEEYFQHAWSYTNGIDMN>A<VLKGFPECLQADICLHLHRALLQHCPAFSG | 597 |
| KCNH7 | RFHQIPNPLRQRLEEYFQHAWTYTNGIDMN>M<VLKGFPECLQADICLHLNQTLLQNCKAFRG | 748 |
| KCNH8 | RVHHLPQQLKQRMLEYFQTTWSVNNGIDSN>E<LLKDFPDELRSDITMHLNKEIL-QLSLFEC | 554 |
| CNGA1 | HFRNVSKDMEKRVIKWFDYLWTNKKTVDEK>E<VLKYLPDKLRAEIAINVHLDTLKKVRIFAD | 482 |
| CNGA2 | QFRKVSKGMEAKVIRWFDYLWTNKKTVDER>E<ILKNLPAKLRAEIAINVHLSTLKKVRIFHD | 457 |
| CNGA3 | QFRKVTKDLETRVIRWFDYLWANKKTVDEK>E<VLKSLPDKLKAEIAINVHLDTLKKVRIFQD | 485 |
| CNGA4 | KLQHVNRKLERRVIDWYQHLQINKKMTNEV>A<ILQHLPERLRAEVAVSVHLSTLSRVQIFQN | 351 |
| CNGB1 | NFYKIPKSVQNRVKTWYEYTWHSQGMLDES>E<LMVQLPDKMRLDLAIDVNYNIVSKVALFQG | 965 |
| CNGB3 | NNYSIPKLVQKRVRTWYEYTWDSQRMLDES>D<LLKTLPTTVQLALAIDVNFSIISKVDLFKG | 527 |
| HCN1 | SFHKLPADMRQKIHDYYEHRYQG-KIFDEE>N<ILNELNDPLREEIVNFNCRKLVATMPLFAN | 478 |
| HCN2 | SFHKLPADFRQKIHDYYEHRYQG-KMFDED>S<ILGELNGPLREEIVNFNCRKLVASMPLFAN | 547 |
| HCN3 | SFHKLPADTRQRIHEYYEHRYQG-KMFDEE>S<ILGELSEPLREEIINFTCRGLVAHMPLFAH | 431 |
| HCN4 | SFHKLPPDTRQRIHDYYEHRYQG-KMFDEE>S<ILGELSEPLREEIINFNCRKLVASMPLFAN | 598 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A715V | c.2144C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487 | ||