No paralogue variants have been mapped to residue 837 for KCNH2.
| KCNH2 | ----P----GKSNGDVRALTYCDLHKIHRD>D<LLEVLDMYPEFSDHFWSSL--EIT-FNLRD | 864 |
| KCNH1 | ----L----AQSCANVRALTYCDLHVIKRD>A<LQKVLEFYTAFSHSFSRNL--ILT-YNLRK | 703 |
| KCNH3 | ----V----VKANADVKGLTYCVLQCLQLA>G<LHDSLALYPEFAPRFSRGLRGELS-YNLGA | 706 |
| KCNH4 | GLGADPNFVLKTSADVKALTYCGLQQLSSR>G<LAEVLRLYPEYGAAFRAGLPRDLT-FNLRQ | 690 |
| KCNH5 | ----L----AHACANVRALTYCDLHIIKRE>A<LLKVLDFYTAFANSFSRNL--TLT-CNLRK | 672 |
| KCNH6 | ----P----GKSSADVRALTYCDLHKIQRA>D<LLEVLDMYPAFAESFWSKL--EVT-FNLRD | 716 |
| KCNH7 | ----P----GKSNADVRALTYCDLHKIQRE>D<LLEVLDMYPEFSDHFLTNL--ELT-FNLRH | 867 |
| KCNH8 | ----V----IKTNADVKALTYCDLQCIILK>G<LFEVLDLYPEYAHKFVEDIQHDLT-YNLRE | 675 |
| CNGA1 | KA--G----NRRTANIKSIGYSDLFCLSKD>D<LMEALTEYPDAKTMLEEKGKQILMKDGLLD | 610 |
| CNGA2 | KM--G----NRRTANIRSLGYSDLFCLSKD>D<LMEAVTEYPDAKKVLEERGREILMKEGLLD | 585 |
| CNGA3 | KS--G----NRRTANIRSIGYSDLFCLSKD>D<LMEALTEYPEAKKALEEKGRQILMKDNLID | 613 |
| CNGA4 | MS--G----NRRTANIKSLGYSDLFCLSKE>D<LREVLSEYPQAQTIMEEKGREILLKMNKLD | 479 |
| CNGB1 | ----G----NRRTANVVAHGFTNLFILDKK>D<LNEILVHYPESQKLLRKKARRMLRSNNKPK | 1091 |
| CNGB3 | ----G----NRRTANVVAHGFANLLTLDKK>T<LQEILVHYPDSERILMKKARVLLKQKAKTA | 653 |
| HCN1 | ----------RRTASVRADTYCRLYSLSVD>N<FNEVLEEYPMMRRAFETVAIDRLDRIGKKN | 598 |
| HCN2 | ----------RRTASVRADTYCRLYSLSVD>N<FNEVLEEYPMMRRAFETVAIDRLDRIGKKN | 667 |
| HCN3 | ----------RRTASVRADTYCRLYSLSVD>H<FNAVLEEFPMMRRAFETVAMDRLLRIGKKN | 551 |
| HCN4 | ----------RRTASVRADTYCRLYSLSVD>N<FNEVLEEYPMMRRAFETVALDRLDRIGKKN | 718 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D837G | c.2510A>G | Inherited Arrhythmia | LQTS | rs199473004 | SIFT: deleterious Polyphen: benign |
| 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 | Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm. 2004 1(1):60-4. 15851119 | |||
| Inherited Arrhythmia | LQTS | Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. Int J Legal Med. 2014 25119684 | |||
| 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.D837N | c.2509G>A | Inherited Arrhythmia | LQTS | rs199473005 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | |||
| p.D837Y | c.2509G>T | Inherited Arrhythmia | LQTS | rs199473005 | SIFT: deleterious Polyphen: probably 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 | 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 | |||