No paralogue variants have been mapped to residue 635 for KCNH2.
| KCNH2 | PSIKDKYVTALYFTFSSLTSVGFGNVSPNT>N<SEKIFSICVMLIGSLMYASIFGNVSAIIQR | 665 |
| KCNH1 | PSKNSVYISSLYFTMTSLTSVGFGNIAPST>D<IEKIFAVAIMMIGSLLYATIFGNVTTIFQQ | 504 |
| KCNH3 | PSLRSAYITSLYFALSSLTSVGFGNVSANT>D<TEKIFSICTMLIGALMHAVVFGNVTAIIQR | 506 |
| KCNH4 | PSRRSAYIAALYFTLSSLTSVGFGNVCANT>D<AEKIFSICTMLIGALMHAVVFGNVTAIIQR | 480 |
| KCNH5 | PSKDSLYVSSLYFTMTSLTTIGFGNIAPTT>D<VEKMFSVAMMMVGSLLYATIFGNVTTIFQQ | 473 |
| KCNH6 | PSVQDKYVTALYFTFSSLTSVGFGNVSPNT>N<SEKVFSICVMLIGSLMYASIFGNVSAIIQR | 517 |
| KCNH7 | PSIKDKYVTALYFTFSSLTSVGFGNVSPNT>N<SEKIFSICVMLIGSLMYASIFGNVSAIIQR | 668 |
| KCNH8 | PSIRSAYIAALYFTLSSLTSVGFGNVSANT>D<AEKIFSICTMLIGALMHALVFGNVTAIIQR | 475 |
| CNGA1 | GRLARKYVYSLYWSTLTLTTIG-ETPPPVR>D<SEYVFVVVDFLIGVLIFATIVGNIGSMISN | 402 |
| CNGA2 | GYLAREYIYCLYWSTLTLTTIG-ETPPPVK>D<EEYLFVIFDFLIGVLIFATIVGNVGSMISN | 377 |
| CNGA3 | GRLSRKYIYSLYWSTLTLTTIG-ETPPPVK>D<EEYLFVVVDFLVGVLIFATIVGNVGSMISN | 405 |
| CNGA4 | ERLRRQYLYSFYFSTLILTTVG-DTPPPAR>E<EEYLFMVGDFLLAVMGFATIMGSMSSVIYN | 271 |
| CNGB1 | -GVGNSYIRCYYFAVKTLITIG-GLPDPKT>L<FEIVFQLLNYFTGVFAFSVMIGQMRDVVGA | 885 |
| CNGB3 | -GEGNEYLRCYYWAVRTLITIG-GLPEPQT>L<FEIVFQLLNFFSGVFVFSSLIGQMRDVIGA | 447 |
| HCN1 | DSWGKQYSYALFKAMSHMLCIGYGAQAPVS>M<SDLWITMLSMIVGATCYAMFVGHATALIQS | 399 |
| HCN2 | HSWSELYSFALFKAMSHMLCIGYGRQAPES>M<TDIWLTMLSMIVGATCYAMFIGHATALIQS | 468 |
| HCN3 | HSWGRQYSHALFKAMSHMLCIGYGQQAPVG>M<PDVWLTMLSMIVGATCYAMFIGHATALIQS | 352 |
| HCN4 | NSWGKQYSYALFKAMSHMLCIGYGRQAPVG>M<SDVWLTMLSMIVGATCYAMFIGHATALIQS | 519 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N635D | c.1903A>G | Inherited Arrhythmia | LQTS | rs199472963 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| 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.N635I | c.1904A>T | Inherited Arrhythmia | LQTS | rs199472964 | SIFT: deleterious Polyphen: possibly 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 | 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.N635K | c.1905C>G | Inherited Arrhythmia | LQTS | rs199472965 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| 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 | |||