No paralogue variants have been mapped to residue 609 for KCNH2.
| KCNH2 | ----G------------------LGGPSIK>D<KYVTALYFTFSSLTSVGFGNVSPNTNSEKI | 639 |
| KCNH1 | --GSG-----------S--GK-WEGGPSKN>S<VYISSLYFTMTSLTSVGFGNIAPSTDIEKI | 478 |
| KCNH3 | GNSSGQSDNCSSSSEANGTGLELLGGPSLR>S<AYITSLYFALSSLTSVGFGNVSANTDTEKI | 480 |
| KCNH4 | ----------------------SVGGPSRR>S<AYIAALYFTLSSLTSVGFGNVCANTDAEKI | 454 |
| KCNH5 | --T-S-----------A--GI-WEGGPSKD>S<LYVSSLYFTMTSLTTIGFGNIAPTTDVEKM | 447 |
| KCNH6 | ----D-----------P------ASGPSVQ>D<KYVTALYFTFSSLTSVGFGNVSPNTNSEKV | 491 |
| KCNH7 | ----D-----------S------SSGPSIK>D<KYVTALYFTFSSLTSVGFGNVSPNTNSEKI | 642 |
| KCNH8 | ----------------------TLGGPSIR>S<AYIAALYFTLSSLTSVGFGNVSANTDAEKI | 449 |
| CNGA1 | ------------------------EFGRLA>R<KYVYSLYWSTLTLTTIG-ETPPPVRDSEYV | 376 |
| CNGA2 | ------------------------EYGYLA>R<EYIYCLYWSTLTLTTIG-ETPPPVKDEEYL | 351 |
| CNGA3 | ------------------------EHGRLS>R<KYIYSLYWSTLTLTTIG-ETPPPVKDEEYL | 379 |
| CNGA4 | ------------------------GFERLR>R<QYLYSFYFSTLILTTVG-DTPPPAREEEYL | 245 |
| CNGB1 | ---------------------------GVG>N<SYIRCYYFAVKTLITIG-GLPDPKTLFEIV | 859 |
| CNGB3 | ---------------------------GEG>N<EYLRCYYWAVRTLITIG-GLPEPQTLFEIV | 421 |
| HCN1 | ------------------------VNDSWG>K<QYSYALFKAMSHMLCIGYGAQAPVSMSDLW | 373 |
| HCN2 | ------------------------VNHSWS>E<LYSFALFKAMSHMLCIGYGRQAPESMTDIW | 442 |
| HCN3 | ------------------------VNHSWG>R<QYSHALFKAMSHMLCIGYGQQAPVGMPDVW | 326 |
| HCN4 | ------------------------VNNSWG>K<QYSYALFKAMSHMLCIGYGRQAPVGMSDVW | 493 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D609G | c.1826A>G | Inherited Arrhythmia | LQTS | rs199472940 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome. Clin Sci (Lond). 2005 108(2):143-50. 15500450 | ||
| 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 | |||
| 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.D609H | c.1825G>C | Inherited Arrhythmia | LQTS | rs199472941 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| 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.D609N | c.1825G>A | Inherited Arrhythmia | LQTS | rs199472941 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472 | |||
| Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| 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.D609Y | c.1825G>T | Inherited Arrhythmia | LQTS | rs199472941 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||