No paralogue variants have been mapped to residue 712 for KCNH2.
| KCNH2 | EFIRFHQIPNPLRQRLEEYFQHAWSYTNGI>D<MNAVLKGFPECLQADICLHLNRSLLQHCKP | 742 |
| KCNH1 | DFLKLYQVPKGLSERVMDYIVSTWSMSRGI>D<TEKVLQICPKDMRADICVHLNRKVFKEHPA | 581 |
| KCNH3 | DYIRIHRIPKPLKQRMLEYFQATWAVNNGI>D<TTELLQSLPDELRADIAMHLHKEVL-QLPL | 582 |
| KCNH4 | DFIRVHRLPRPLKQRMLEYFQTTWAVNSGI>D<ANELLRDFPDELRADIAMHLNREIL-QLPL | 556 |
| KCNH5 | DFLKLYQVPKGLSERVMDYIVSTWSMSKGI>D<TEKVLSICPKDMRADICVHLNRKVFNEHPA | 550 |
| KCNH6 | EFIRFHQIPNPLRQRLEEYFQHAWSYTNGI>D<MNAVLKGFPECLQADICLHLHRALLQHCPA | 594 |
| KCNH7 | EFIRFHQIPNPLRQRLEEYFQHAWTYTNGI>D<MNMVLKGFPECLQADICLHLNQTLLQNCKA | 745 |
| KCNH8 | DFIRVHHLPQQLKQRMLEYFQTTWSVNNGI>D<SNELLKDFPDELRSDITMHLNKEIL-QLSL | 551 |
| CNGA1 | QYMHFRNVSKDMEKRVIKWFDYLWTNKKTV>D<EKEVLKYLPDKLRAEIAINVHLDTLKKVRI | 479 |
| CNGA2 | HYMQFRKVSKGMEAKVIRWFDYLWTNKKTV>D<EREILKNLPAKLRAEIAINVHLSTLKKVRI | 454 |
| CNGA3 | QYMQFRKVTKDLETRVIRWFDYLWANKKTV>D<EKEVLKSLPDKLKAEIAINVHLDTLKKVRI | 482 |
| CNGA4 | KYMKLQHVNRKLERRVIDWYQHLQINKKMT>N<EVAILQHLPERLRAEVAVSVHLSTLSRVQI | 348 |
| CNGB1 | KYMNFYKIPKSVQNRVKTWYEYTWHSQGML>D<ESELMVQLPDKMRLDLAIDVNYNIVSKVAL | 962 |
| CNGB3 | AYMNNYSIPKLVQKRVRTWYEYTWDSQRML>D<ESDLLKTLPTTVQLALAIDVNFSIISKVDL | 524 |
| HCN1 | QYMSFHKLPADMRQKIHDYYEHRYQG-KIF>D<EENILNELNDPLREEIVNFNCRKLVATMPL | 475 |
| HCN2 | QYMSFHKLPADFRQKIHDYYEHRYQG-KMF>D<EDSILGELNGPLREEIVNFNCRKLVASMPL | 544 |
| HCN3 | QYMSFHKLPADTRQRIHEYYEHRYQG-KMF>D<EESILGELSEPLREEIINFTCRGLVAHMPL | 428 |
| HCN4 | QYMSFHKLPPDTRQRIHDYYEHRYQG-KMF>D<EESILGELSEPLREEIINFNCRKLVASMPL | 595 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D712N | c.2134G>A | Inherited Arrhythmia | rs199852343 | SIFT: deleterious Polyphen: probably damaging | |
| 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 | ||