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 |