No paralogue variants have been mapped to residue 611 for KCNH2.
| KCNH2 | --G------------------LGGPSIKDK>Y<VTALYFTFSSLTSVGFGNVSPNTNSEKIFS | 641 |
| KCNH1 | GSG-----------S--GK-WEGGPSKNSV>Y<ISSLYFTMTSLTSVGFGNIAPSTDIEKIFA | 480 |
| KCNH3 | SSGQSDNCSSSSEANGTGLELLGGPSLRSA>Y<ITSLYFALSSLTSVGFGNVSANTDTEKIFS | 482 |
| KCNH4 | --------------------SVGGPSRRSA>Y<IAALYFTLSSLTSVGFGNVCANTDAEKIFS | 456 |
| KCNH5 | T-S-----------A--GI-WEGGPSKDSL>Y<VSSLYFTMTSLTTIGFGNIAPTTDVEKMFS | 449 |
| KCNH6 | --D-----------P------ASGPSVQDK>Y<VTALYFTFSSLTSVGFGNVSPNTNSEKVFS | 493 |
| KCNH7 | --D-----------S------SSGPSIKDK>Y<VTALYFTFSSLTSVGFGNVSPNTNSEKIFS | 644 |
| KCNH8 | --------------------TLGGPSIRSA>Y<IAALYFTLSSLTSVGFGNVSANTDAEKIFS | 451 |
| CNGA1 | ----------------------EFGRLARK>Y<VYSLYWSTLTLTTIG-ETPPPVRDSEYVFV | 378 |
| CNGA2 | ----------------------EYGYLARE>Y<IYCLYWSTLTLTTIG-ETPPPVKDEEYLFV | 353 |
| CNGA3 | ----------------------EHGRLSRK>Y<IYSLYWSTLTLTTIG-ETPPPVKDEEYLFV | 381 |
| CNGA4 | ----------------------GFERLRRQ>Y<LYSFYFSTLILTTVG-DTPPPAREEEYLFM | 247 |
| CNGB1 | -------------------------GVGNS>Y<IRCYYFAVKTLITIG-GLPDPKTLFEIVFQ | 861 |
| CNGB3 | -------------------------GEGNE>Y<LRCYYWAVRTLITIG-GLPEPQTLFEIVFQ | 423 |
| HCN1 | ----------------------VNDSWGKQ>Y<SYALFKAMSHMLCIGYGAQAPVSMSDLWIT | 375 |
| HCN2 | ----------------------VNHSWSEL>Y<SFALFKAMSHMLCIGYGRQAPESMTDIWLT | 444 |
| HCN3 | ----------------------VNHSWGRQ>Y<SHALFKAMSHMLCIGYGQQAPVGMPDVWLT | 328 |
| HCN4 | ----------------------VNNSWGKQ>Y<SYALFKAMSHMLCIGYGRQAPVGMSDVWLT | 495 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y611D | c.1831T>G | Inherited Arrhythmia | LQTS | rs199472942 | 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 | ||
| p.Y611H | c.1831T>C | Inherited Arrhythmia | LQTS | rs199472942 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 95(3):565-7. 9024139 | ||
| Inherited Arrhythmia | LQTS | Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638 | |||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J Biol Chem. 1998 273(33):21061-6. 9694858 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| Unknown | Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway. J Biol Chem. 2005 280(19):19419-25. 15760896 | ||||