No paralogue variants have been mapped to residue 820 for KCNH2.
| KCNH2 | GKNDIFGEPLNLYAR------P----GKSN>G<DVRALTYCDLHKIHRDDLLEVLDMYPEFSD | 850 |
| KCNH1 | GKGDVFGDVFWKEAT------L----AQSC>A<NVRALTYCDLHVIKRDALQKVLEFYTAFSH | 689 |
| KCNH3 | GKGDLIGCELPRREQ------V----VKAN>A<DVKGLTYCVLQCLQLAGLHDSLALYPEFAP | 690 |
| KCNH4 | GKGDLIGADIPEPGQEPGLGADPNFVLKTS>A<DVKALTYCGLQQLSSRGLAEVLRLYPEYGA | 674 |
| KCNH5 | GKGDVFGDIFWKETT------L----AHAC>A<NVRALTYCDLHIIKREALLKVLDFYTAFAN | 658 |
| KCNH6 | GKNDIFGEPVSLHAQ------P----GKSS>A<DVRALTYCDLHKIQRADLLEVLDMYPAFAE | 702 |
| KCNH7 | GKNDIFGEMVHLYAK------P----GKSN>A<DVRALTYCDLHKIQREDLLEVLDMYPEFSD | 853 |
| KCNH8 | GKGDLIGANLSIKDQ------V----IKTN>A<DVKALTYCDLQCIILKGLFEVLDLYPEYAH | 659 |
| CNGA1 | SDGSYFGEISILNIKGSKA--G----NRRT>A<NIKSIGYSDLFCLSKDDLMEALTEYPDAKT | 593 |
| CNGA2 | SAGSCFGEISILNIKGSKM--G----NRRT>A<NIRSLGYSDLFCLSKDDLMEAVTEYPDAKK | 568 |
| CNGA3 | SDGSYFGEISILNIKGSKS--G----NRRT>A<NIRSIGYSDLFCLSKDDLMEALTEYPEAKK | 596 |
| CNGA4 | GAGLYFGEISIINIKGNMS--G----NRRT>A<NIKSLGYSDLFCLSKEDLREVLSEYPQAQT | 462 |
| CNGB1 | KAGSVFGEISLLAVGG-----G----NRRT>A<NVVAHGFTNLFILDKKDLNEILVHYPESQK | 1074 |
| CNGB3 | KAGSVFGEISLLAAGG-----G----NRRT>A<NVVAHGFANLLTLDKKTLQEILVHYPDSER | 636 |
| HCN1 | TDGSYFGEICLLTKG------------RRT>A<SVRADTYCRLYSLSVDNFNEVLEEYPMMRR | 581 |
| HCN2 | SDGSYFGEICLLTRG------------RRT>A<SVRADTYCRLYSLSVDNFNEVLEEYPMMRR | 650 |
| HCN3 | TDGSYFGEICLLTRG------------RRT>A<SVRADTYCRLYSLSVDHFNAVLEEFPMMRR | 534 |
| HCN4 | ADGSYFGEICLLTRG------------RRT>A<SVRADTYCRLYSLSVDNFNEVLEEYPMMRR | 701 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G820R | c.2458G>A | Inherited Arrhythmia | LQTS | rs199473001 | 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 | 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 | 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.G820E | c.2459G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | 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 | ||