No paralogue variants have been mapped to residue 633 for KCNH2.
| KCNH2 | GGPSIKDKYVTALYFTFSSLTSVGFGNVSP>N<TNSEKIFSICVMLIGSLMYASIFGNVSAII | 663 |
| KCNH1 | GGPSKNSVYISSLYFTMTSLTSVGFGNIAP>S<TDIEKIFAVAIMMIGSLLYATIFGNVTTIF | 502 |
| KCNH3 | GGPSLRSAYITSLYFALSSLTSVGFGNVSA>N<TDTEKIFSICTMLIGALMHAVVFGNVTAII | 504 |
| KCNH4 | GGPSRRSAYIAALYFTLSSLTSVGFGNVCA>N<TDAEKIFSICTMLIGALMHAVVFGNVTAII | 478 |
| KCNH5 | GGPSKDSLYVSSLYFTMTSLTTIGFGNIAP>T<TDVEKMFSVAMMMVGSLLYATIFGNVTTIF | 471 |
| KCNH6 | SGPSVQDKYVTALYFTFSSLTSVGFGNVSP>N<TNSEKVFSICVMLIGSLMYASIFGNVSAII | 515 |
| KCNH7 | SGPSIKDKYVTALYFTFSSLTSVGFGNVSP>N<TNSEKIFSICVMLIGSLMYASIFGNVSAII | 666 |
| KCNH8 | GGPSIRSAYIAALYFTLSSLTSVGFGNVSA>N<TDAEKIFSICTMLIGALMHALVFGNVTAII | 473 |
| CNGA1 | EFGRLARKYVYSLYWSTLTLTTIG-ETPPP>V<RDSEYVFVVVDFLIGVLIFATIVGNIGSMI | 400 |
| CNGA2 | EYGYLAREYIYCLYWSTLTLTTIG-ETPPP>V<KDEEYLFVIFDFLIGVLIFATIVGNVGSMI | 375 |
| CNGA3 | EHGRLSRKYIYSLYWSTLTLTTIG-ETPPP>V<KDEEYLFVVVDFLVGVLIFATIVGNVGSMI | 403 |
| CNGA4 | GFERLRRQYLYSFYFSTLILTTVG-DTPPP>A<REEEYLFMVGDFLLAVMGFATIMGSMSSVI | 269 |
| CNGB1 | ---GVGNSYIRCYYFAVKTLITIG-GLPDP>K<TLFEIVFQLLNYFTGVFAFSVMIGQMRDVV | 883 |
| CNGB3 | ---GEGNEYLRCYYWAVRTLITIG-GLPEP>Q<TLFEIVFQLLNFFSGVFVFSSLIGQMRDVI | 445 |
| HCN1 | VNDSWGKQYSYALFKAMSHMLCIGYGAQAP>V<SMSDLWITMLSMIVGATCYAMFVGHATALI | 397 |
| HCN2 | VNHSWSELYSFALFKAMSHMLCIGYGRQAP>E<SMTDIWLTMLSMIVGATCYAMFIGHATALI | 466 |
| HCN3 | VNHSWGRQYSHALFKAMSHMLCIGYGQQAP>V<GMPDVWLTMLSMIVGATCYAMFIGHATALI | 350 |
| HCN4 | VNNSWGKQYSYALFKAMSHMLCIGYGRQAP>V<GMSDVWLTMLSMIVGATCYAMFIGHATALI | 517 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N633D | c.1897A>G | Inherited Arrhythmia | LQTS | rs199472960 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J Hum Genet. 2005 50(9):490-6. 16155735 | ||
| Inherited Arrhythmia | LQTS | Functional studies on three novel HCNH2 mutations in Taiwan: identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect. Biochem Biophys Res Commun. 2008 373(4):572-8. 18593567 | |||
| p.N633I | c.1898A>T | Inherited Arrhythmia | LQTS | rs199472961 | 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.N633S | c.1898A>G | Inherited Arrhythmia | LQTS | rs199472961 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. Hum Genet. 1998 102(3):265-72. 9544837 | ||
| 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 | Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. Pacing Clin Electrophysiol. 2003 26(8):1660-7. 12877697 | |||
| 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 | [Electrophysiological characterization of long QT syndrome associated mutations V630A and N633S]. Zhonghua Xin Xue Guan Bing Za Zhi. 2006 34(6):523-7. 16842670 | |||
| Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | |||
| Inherited Arrhythmia | LQTS | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | |||
| 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.N633K | c.1899C>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genetic characteristics of children and adolescents with long-QT syndrome diagnosed by school-based electrocardiographic screening programs. Circ Arrhythm Electrophysiol. 2014 7(1):107-12. doi: 10.1161/CIRCEP.113.000426. 24363352 | ||