No paralogue variants have been mapped to residue 641 for KCNH2.
| KCNH2 | YVTALYFTFSSLTSVGFGNVSPNTNSEKIF>S<ICVMLIGSLMYASIFGNVSAIIQRLYSGTA | 671 |
| KCNH1 | YISSLYFTMTSLTSVGFGNIAPSTDIEKIF>A<VAIMMIGSLLYATIFGNVTTIFQQMYANTN | 510 |
| KCNH3 | YITSLYFALSSLTSVGFGNVSANTDTEKIF>S<ICTMLIGALMHAVVFGNVTAIIQRMYARRF | 512 |
| KCNH4 | YIAALYFTLSSLTSVGFGNVCANTDAEKIF>S<ICTMLIGALMHAVVFGNVTAIIQRMYSRRS | 486 |
| KCNH5 | YVSSLYFTMTSLTTIGFGNIAPTTDVEKMF>S<VAMMMVGSLLYATIFGNVTTIFQQMYANTN | 479 |
| KCNH6 | YVTALYFTFSSLTSVGFGNVSPNTNSEKVF>S<ICVMLIGSLMYASIFGNVSAIIQRLYSGTA | 523 |
| KCNH7 | YVTALYFTFSSLTSVGFGNVSPNTNSEKIF>S<ICVMLIGSLMYASIFGNVSAIIQRLYSGTA | 674 |
| KCNH8 | YIAALYFTLSSLTSVGFGNVSANTDAEKIF>S<ICTMLIGALMHALVFGNVTAIIQRMYSRWS | 481 |
| CNGA1 | YVYSLYWSTLTLTTIG-ETPPPVRDSEYVF>V<VVDFLIGVLIFATIVGNIGSMISNMNAARA | 408 |
| CNGA2 | YIYCLYWSTLTLTTIG-ETPPPVKDEEYLF>V<IFDFLIGVLIFATIVGNVGSMISNMNATRA | 383 |
| CNGA3 | YIYSLYWSTLTLTTIG-ETPPPVKDEEYLF>V<VVDFLVGVLIFATIVGNVGSMISNMNASRA | 411 |
| CNGA4 | YLYSFYFSTLILTTVG-DTPPPAREEEYLF>M<VGDFLLAVMGFATIMGSMSSVIYNMNTADA | 277 |
| CNGB1 | YIRCYYFAVKTLITIG-GLPDPKTLFEIVF>Q<LLNYFTGVFAFSVMIGQMRDVVGAATAGQT | 891 |
| CNGB3 | YLRCYYWAVRTLITIG-GLPEPQTLFEIVF>Q<LLNFFSGVFVFSSLIGQMRDVIGAATANQN | 453 |
| HCN1 | YSYALFKAMSHMLCIGYGAQAPVSMSDLWI>T<MLSMIVGATCYAMFVGHATALIQSLDSSRR | 405 |
| HCN2 | YSFALFKAMSHMLCIGYGRQAPESMTDIWL>T<MLSMIVGATCYAMFIGHATALIQSLDSSRR | 474 |
| HCN3 | YSHALFKAMSHMLCIGYGQQAPVGMPDVWL>T<MLSMIVGATCYAMFIGHATALIQSLDSSRR | 358 |
| HCN4 | YSYALFKAMSHMLCIGYGRQAPVGMSDVWL>T<MLSMIVGATCYAMFIGHATALIQSLDSSRR | 525 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S641F | c.1922C>T | Inherited Arrhythmia | LQTS | rs199472971 | 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 | |||