No paralogue variants have been mapped to residue 721 for KCNH2.
| KCNH2 | NPLRQRLEEYFQHAWSYTNGIDMNAVLKGF>P<ECLQADICLHLNRSLLQHCKPFRGATKGCL | 751 |
| KCNH1 | KGLSERVMDYIVSTWSMSRGIDTEKVLQIC>P<KDMRADICVHLNRKVFKEHPAFRLASDGCL | 590 |
| KCNH3 | KPLKQRMLEYFQATWAVNNGIDTTELLQSL>P<DELRADIAMHLHKEVL-QLPLFEAASRGCL | 591 |
| KCNH4 | RPLKQRMLEYFQTTWAVNSGIDANELLRDF>P<DELRADIAMHLNREIL-QLPLFGAASRGCL | 565 |
| KCNH5 | KGLSERVMDYIVSTWSMSKGIDTEKVLSIC>P<KDMRADICVHLNRKVFNEHPAFRLASDGCL | 559 |
| KCNH6 | NPLRQRLEEYFQHAWSYTNGIDMNAVLKGF>P<ECLQADICLHLHRALLQHCPAFSGAGKGCL | 603 |
| KCNH7 | NPLRQRLEEYFQHAWTYTNGIDMNMVLKGF>P<ECLQADICLHLNQTLLQNCKAFRGASKGCL | 754 |
| KCNH8 | QQLKQRMLEYFQTTWSVNNGIDSNELLKDF>P<DELRSDITMHLNKEIL-QLSLFECASRGCL | 560 |
| CNGA1 | KDMEKRVIKWFDYLWTNKKTVDEKEVLKYL>P<DKLRAEIAINVHLDTLKKVRIFADCEAGLL | 488 |
| CNGA2 | KGMEAKVIRWFDYLWTNKKTVDEREILKNL>P<AKLRAEIAINVHLSTLKKVRIFHDCEAGLL | 463 |
| CNGA3 | KDLETRVIRWFDYLWANKKTVDEKEVLKSL>P<DKLKAEIAINVHLDTLKKVRIFQDCEAGLL | 491 |
| CNGA4 | RKLERRVIDWYQHLQINKKMTNEVAILQHL>P<ERLRAEVAVSVHLSTLSRVQIFQNCEASLL | 357 |
| CNGB1 | KSVQNRVKTWYEYTWHSQGMLDESELMVQL>P<DKMRLDLAIDVNYNIVSKVALFQGCDRQMI | 971 |
| CNGB3 | KLVQKRVRTWYEYTWDSQRMLDESDLLKTL>P<TTVQLALAIDVNFSIISKVDLFKGCDTQMI | 533 |
| HCN1 | ADMRQKIHDYYEHRYQG-KIFDEENILNEL>N<DPLREEIVNFNCRKLVATMPLFANADPNFV | 484 |
| HCN2 | ADFRQKIHDYYEHRYQG-KMFDEDSILGEL>N<GPLREEIVNFNCRKLVASMPLFANADPNFV | 553 |
| HCN3 | ADTRQRIHEYYEHRYQG-KMFDEESILGEL>S<EPLREEIINFTCRGLVAHMPLFAHADPSFV | 437 |
| HCN4 | PDTRQRIHDYYEHRYQG-KMFDEESILGEL>S<EPLREEIINFNCRKLVASMPLFANADPNFV | 604 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P721L | c.2162C>T | Inherited Arrhythmia | LQTS | rs199472986 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| 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.P721R | c.2162C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| 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 | ||