Paralogue Annotation for KCNH2 residue 820

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 820
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 820

No paralogue variants have been mapped to residue 820 for KCNH2.



KCNH2GKNDIFGEPLNLYAR------P----GKSN>G<DVRALTYCDLHKIHRDDLLEVLDMYPEFSD850
KCNH1GKGDVFGDVFWKEAT------L----AQSC>A<NVRALTYCDLHVIKRDALQKVLEFYTAFSH689
KCNH3GKGDLIGCELPRREQ------V----VKAN>A<DVKGLTYCVLQCLQLAGLHDSLALYPEFAP690
KCNH4GKGDLIGADIPEPGQEPGLGADPNFVLKTS>A<DVKALTYCGLQQLSSRGLAEVLRLYPEYGA674
KCNH5GKGDVFGDIFWKETT------L----AHAC>A<NVRALTYCDLHIIKREALLKVLDFYTAFAN658
KCNH6GKNDIFGEPVSLHAQ------P----GKSS>A<DVRALTYCDLHKIQRADLLEVLDMYPAFAE702
KCNH7GKNDIFGEMVHLYAK------P----GKSN>A<DVRALTYCDLHKIQREDLLEVLDMYPEFSD853
KCNH8GKGDLIGANLSIKDQ------V----IKTN>A<DVKALTYCDLQCIILKGLFEVLDLYPEYAH659
CNGA1SDGSYFGEISILNIKGSKA--G----NRRT>A<NIKSIGYSDLFCLSKDDLMEALTEYPDAKT593
CNGA2SAGSCFGEISILNIKGSKM--G----NRRT>A<NIRSLGYSDLFCLSKDDLMEAVTEYPDAKK568
CNGA3SDGSYFGEISILNIKGSKS--G----NRRT>A<NIRSIGYSDLFCLSKDDLMEALTEYPEAKK596
CNGA4GAGLYFGEISIINIKGNMS--G----NRRT>A<NIKSLGYSDLFCLSKEDLREVLSEYPQAQT462
CNGB1KAGSVFGEISLLAVGG-----G----NRRT>A<NVVAHGFTNLFILDKKDLNEILVHYPESQK1074
CNGB3KAGSVFGEISLLAAGG-----G----NRRT>A<NVVAHGFANLLTLDKKTLQEILVHYPDSER636
HCN1TDGSYFGEICLLTKG------------RRT>A<SVRADTYCRLYSLSVDNFNEVLEEYPMMRR581
HCN2SDGSYFGEICLLTRG------------RRT>A<SVRADTYCRLYSLSVDNFNEVLEEYPMMRR650
HCN3TDGSYFGEICLLTRG------------RRT>A<SVRADTYCRLYSLSVDHFNAVLEEFPMMRR534
HCN4ADGSYFGEICLLTRG------------RRT>A<SVRADTYCRLYSLSVDNFNEVLEEYPMMRR701
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G820Rc.2458G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably 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 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
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.G820Ec.2459G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430