No paralogue variants have been mapped to residue 623 for KCNH2.
| KCNH2 | ---------LGGPSIKDKYVTALYFTFSSL>T<SVGFGNVSPNTNSEKIFSICVMLIGSLMYA | 653 |
| KCNH1 | --S--GK-WEGGPSKNSVYISSLYFTMTSL>T<SVGFGNIAPSTDIEKIFAVAIMMIGSLLYA | 492 |
| KCNH3 | EANGTGLELLGGPSLRSAYITSLYFALSSL>T<SVGFGNVSANTDTEKIFSICTMLIGALMHA | 494 |
| KCNH4 | --------SVGGPSRRSAYIAALYFTLSSL>T<SVGFGNVCANTDAEKIFSICTMLIGALMHA | 468 |
| KCNH5 | --A--GI-WEGGPSKDSLYVSSLYFTMTSL>T<TIGFGNIAPTTDVEKMFSVAMMMVGSLLYA | 461 |
| KCNH6 | --P------ASGPSVQDKYVTALYFTFSSL>T<SVGFGNVSPNTNSEKVFSICVMLIGSLMYA | 505 |
| KCNH7 | --S------SSGPSIKDKYVTALYFTFSSL>T<SVGFGNVSPNTNSEKIFSICVMLIGSLMYA | 656 |
| KCNH8 | --------TLGGPSIRSAYIAALYFTLSSL>T<SVGFGNVSANTDAEKIFSICTMLIGALMHA | 463 |
| CNGA1 | ----------EFGRLARKYVYSLYWSTLTL>T<TIG-ETPPPVRDSEYVFVVVDFLIGVLIFA | 390 |
| CNGA2 | ----------EYGYLAREYIYCLYWSTLTL>T<TIG-ETPPPVKDEEYLFVIFDFLIGVLIFA | 365 |
| CNGA3 | ----------EHGRLSRKYIYSLYWSTLTL>T<TIG-ETPPPVKDEEYLFVVVDFLVGVLIFA | 393 |
| CNGA4 | ----------GFERLRRQYLYSFYFSTLIL>T<TVG-DTPPPAREEEYLFMVGDFLLAVMGFA | 259 |
| CNGB1 | -------------GVGNSYIRCYYFAVKTL>I<TIG-GLPDPKTLFEIVFQLLNYFTGVFAFS | 873 |
| CNGB3 | -------------GEGNEYLRCYYWAVRTL>I<TIG-GLPEPQTLFEIVFQLLNFFSGVFVFS | 435 |
| HCN1 | ----------VNDSWGKQYSYALFKAMSHM>L<CIGYGAQAPVSMSDLWITMLSMIVGATCYA | 387 |
| HCN2 | ----------VNHSWSELYSFALFKAMSHM>L<CIGYGRQAPESMTDIWLTMLSMIVGATCYA | 456 |
| HCN3 | ----------VNHSWGRQYSHALFKAMSHM>L<CIGYGQQAPVGMPDVWLTMLSMIVGATCYA | 340 |
| HCN4 | ----------VNNSWGKQYSYALFKAMSHM>L<CIGYGRQAPVGMSDVWLTMLSMIVGATCYA | 507 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T623I | c.1868C>T | Inherited Arrhythmia | LQTS | rs199472950 | 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 | 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 | 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 | 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 | |||
| p.T623A | c.1867A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||