Paralogue Annotation for KCNH2 residue 635

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 635
Reference Amino Acid: N - Asparagine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 635

No paralogue variants have been mapped to residue 635 for KCNH2.



KCNH2PSIKDKYVTALYFTFSSLTSVGFGNVSPNT>N<SEKIFSICVMLIGSLMYASIFGNVSAIIQR665
KCNH1PSKNSVYISSLYFTMTSLTSVGFGNIAPST>D<IEKIFAVAIMMIGSLLYATIFGNVTTIFQQ504
KCNH3PSLRSAYITSLYFALSSLTSVGFGNVSANT>D<TEKIFSICTMLIGALMHAVVFGNVTAIIQR506
KCNH4PSRRSAYIAALYFTLSSLTSVGFGNVCANT>D<AEKIFSICTMLIGALMHAVVFGNVTAIIQR480
KCNH5PSKDSLYVSSLYFTMTSLTTIGFGNIAPTT>D<VEKMFSVAMMMVGSLLYATIFGNVTTIFQQ473
KCNH6PSVQDKYVTALYFTFSSLTSVGFGNVSPNT>N<SEKVFSICVMLIGSLMYASIFGNVSAIIQR517
KCNH7PSIKDKYVTALYFTFSSLTSVGFGNVSPNT>N<SEKIFSICVMLIGSLMYASIFGNVSAIIQR668
KCNH8PSIRSAYIAALYFTLSSLTSVGFGNVSANT>D<AEKIFSICTMLIGALMHALVFGNVTAIIQR475
CNGA1GRLARKYVYSLYWSTLTLTTIG-ETPPPVR>D<SEYVFVVVDFLIGVLIFATIVGNIGSMISN402
CNGA2GYLAREYIYCLYWSTLTLTTIG-ETPPPVK>D<EEYLFVIFDFLIGVLIFATIVGNVGSMISN377
CNGA3GRLSRKYIYSLYWSTLTLTTIG-ETPPPVK>D<EEYLFVVVDFLVGVLIFATIVGNVGSMISN405
CNGA4ERLRRQYLYSFYFSTLILTTVG-DTPPPAR>E<EEYLFMVGDFLLAVMGFATIMGSMSSVIYN271
CNGB1-GVGNSYIRCYYFAVKTLITIG-GLPDPKT>L<FEIVFQLLNYFTGVFAFSVMIGQMRDVVGA885
CNGB3-GEGNEYLRCYYWAVRTLITIG-GLPEPQT>L<FEIVFQLLNFFSGVFVFSSLIGQMRDVIGA447
HCN1DSWGKQYSYALFKAMSHMLCIGYGAQAPVS>M<SDLWITMLSMIVGATCYAMFVGHATALIQS399
HCN2HSWSELYSFALFKAMSHMLCIGYGRQAPES>M<TDIWLTMLSMIVGATCYAMFIGHATALIQS468
HCN3HSWGRQYSHALFKAMSHMLCIGYGQQAPVG>M<PDVWLTMLSMIVGATCYAMFIGHATALIQS352
HCN4NSWGKQYSYALFKAMSHMLCIGYGRQAPVG>M<SDVWLTMLSMIVGATCYAMFIGHATALIQS519
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N635Dc.1903A>G Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.N635Ic.1904A>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.N635Kc.1905C>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS 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 ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS 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