No paralogue variants have been mapped to residue 711 for KCNH2.
| KCNH2 | REFIRFHQIPNPLRQRLEEYFQHAWSYTNG>I<DMNAVLKGFPECLQADICLHLNRSLLQHCK | 741 |
| KCNH1 | RDFLKLYQVPKGLSERVMDYIVSTWSMSRG>I<DTEKVLQICPKDMRADICVHLNRKVFKEHP | 580 |
| KCNH3 | RDYIRIHRIPKPLKQRMLEYFQATWAVNNG>I<DTTELLQSLPDELRADIAMHLHKEVL-QLP | 581 |
| KCNH4 | KDFIRVHRLPRPLKQRMLEYFQTTWAVNSG>I<DANELLRDFPDELRADIAMHLNREIL-QLP | 555 |
| KCNH5 | RDFLKLYQVPKGLSERVMDYIVSTWSMSKG>I<DTEKVLSICPKDMRADICVHLNRKVFNEHP | 549 |
| KCNH6 | KEFIRFHQIPNPLRQRLEEYFQHAWSYTNG>I<DMNAVLKGFPECLQADICLHLHRALLQHCP | 593 |
| KCNH7 | KEFIRFHQIPNPLRQRLEEYFQHAWTYTNG>I<DMNMVLKGFPECLQADICLHLNQTLLQNCK | 744 |
| KCNH8 | KDFIRVHHLPQQLKQRMLEYFQTTWSVNNG>I<DSNELLKDFPDELRSDITMHLNKEIL-QLS | 550 |
| CNGA1 | KQYMHFRNVSKDMEKRVIKWFDYLWTNKKT>V<DEKEVLKYLPDKLRAEIAINVHLDTLKKVR | 478 |
| CNGA2 | KHYMQFRKVSKGMEAKVIRWFDYLWTNKKT>V<DEREILKNLPAKLRAEIAINVHLSTLKKVR | 453 |
| CNGA3 | KQYMQFRKVTKDLETRVIRWFDYLWANKKT>V<DEKEVLKSLPDKLKAEIAINVHLDTLKKVR | 481 |
| CNGA4 | KKYMKLQHVNRKLERRVIDWYQHLQINKKM>T<NEVAILQHLPERLRAEVAVSVHLSTLSRVQ | 347 |
| CNGB1 | VKYMNFYKIPKSVQNRVKTWYEYTWHSQGM>L<DESELMVQLPDKMRLDLAIDVNYNIVSKVA | 961 |
| CNGB3 | IAYMNNYSIPKLVQKRVRTWYEYTWDSQRM>L<DESDLLKTLPTTVQLALAIDVNFSIISKVD | 523 |
| HCN1 | EQYMSFHKLPADMRQKIHDYYEHRYQG-KI>F<DEENILNELNDPLREEIVNFNCRKLVATMP | 474 |
| HCN2 | EQYMSFHKLPADFRQKIHDYYEHRYQG-KM>F<DEDSILGELNGPLREEIVNFNCRKLVASMP | 543 |
| HCN3 | EQYMSFHKLPADTRQRIHEYYEHRYQG-KM>F<DEESILGELSEPLREEIINFTCRGLVAHMP | 427 |
| HCN4 | EQYMSFHKLPPDTRQRIHDYYEHRYQG-KM>F<DEESILGELSEPLREEIINFNCRKLVASMP | 594 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I711V | c.2131A>G | Inherited Arrhythmia | LQTS | rs199473532 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||