No paralogue variants have been mapped to residue 610 for KCNH2.
| KCNH2 | ---G------------------LGGPSIKD>K<YVTALYFTFSSLTSVGFGNVSPNTNSEKIF | 640 |
| KCNH1 | -GSG-----------S--GK-WEGGPSKNS>V<YISSLYFTMTSLTSVGFGNIAPSTDIEKIF | 479 |
| KCNH3 | NSSGQSDNCSSSSEANGTGLELLGGPSLRS>A<YITSLYFALSSLTSVGFGNVSANTDTEKIF | 481 |
| KCNH4 | ---------------------SVGGPSRRS>A<YIAALYFTLSSLTSVGFGNVCANTDAEKIF | 455 |
| KCNH5 | -T-S-----------A--GI-WEGGPSKDS>L<YVSSLYFTMTSLTTIGFGNIAPTTDVEKMF | 448 |
| KCNH6 | ---D-----------P------ASGPSVQD>K<YVTALYFTFSSLTSVGFGNVSPNTNSEKVF | 492 |
| KCNH7 | ---D-----------S------SSGPSIKD>K<YVTALYFTFSSLTSVGFGNVSPNTNSEKIF | 643 |
| KCNH8 | ---------------------TLGGPSIRS>A<YIAALYFTLSSLTSVGFGNVSANTDAEKIF | 450 |
| CNGA1 | -----------------------EFGRLAR>K<YVYSLYWSTLTLTTIG-ETPPPVRDSEYVF | 377 |
| CNGA2 | -----------------------EYGYLAR>E<YIYCLYWSTLTLTTIG-ETPPPVKDEEYLF | 352 |
| CNGA3 | -----------------------EHGRLSR>K<YIYSLYWSTLTLTTIG-ETPPPVKDEEYLF | 380 |
| CNGA4 | -----------------------GFERLRR>Q<YLYSFYFSTLILTTVG-DTPPPAREEEYLF | 246 |
| CNGB1 | --------------------------GVGN>S<YIRCYYFAVKTLITIG-GLPDPKTLFEIVF | 860 |
| CNGB3 | --------------------------GEGN>E<YLRCYYWAVRTLITIG-GLPEPQTLFEIVF | 422 |
| HCN1 | -----------------------VNDSWGK>Q<YSYALFKAMSHMLCIGYGAQAPVSMSDLWI | 374 |
| HCN2 | -----------------------VNHSWSE>L<YSFALFKAMSHMLCIGYGRQAPESMTDIWL | 443 |
| HCN3 | -----------------------VNHSWGR>Q<YSHALFKAMSHMLCIGYGQQAPVGMPDVWL | 327 |
| HCN4 | -----------------------VNNSWGK>Q<YSYALFKAMSHMLCIGYGRQAPVGMSDVWL | 494 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K610N | c.1830G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||