No paralogue variants have been mapped to residue 873 for KCNH2.
| KCNH2 | HFWSSL--EIT-FNLRDTNM-IP-GSP--->G<STELE--------GGFSRQRKRKLSFRRRT | 895 |
| KCNH1 | SFSRNL--ILT-YNLRKRIV-FRKISD--->V<KREEE--------ERMKRKNEAPLILPPDH | 735 |
| KCNH3 | RFSRGLRGELS-YNLGAGGG-SAEVDT--->-<-SSLS------------G-------D--NT | 723 |
| KCNH4 | AFRAGLPRDLT-FNLRQGSD-TSGLSR--->-<-FSRS--------PRLSQPRSESLGSSSDK | 720 |
| KCNH5 | SFSRNL--TLT-CNLRKRII-FRKISD--->V<KKEEE--------ERLRQKNEVTLSIPVDH | 704 |
| KCNH6 | SFWSKL--EVT-FNLRDAAG-GL------->H<SSPRQ--------APGSQDHQGFFLSDNQS | 744 |
| KCNH7 | HFLTNL--ELT-FNLRHESA-KA-DLLRSQ>S<MNDSE--------GDNCKLRRRKLSFESEG | 901 |
| KCNH8 | KFVEDIQHDLT-YNLREGHE-SDVISR--->-<-LSNK--------SMVSQSEPKGNGN-INK | 704 |
| CNGA1 | MLEEKGKQILMKDGLLDLNI-ANAGSD--->P<KDLEE--------K---VTRME--GSVDLL | 637 |
| CNGA2 | VLEERGREILMKEGLLDENE-VATS-M--->E<VDVQE--------K---LGQLE--TNMETL | 611 |
| CNGA3 | ALEEKGRQILMKDNLIDEEL-ARAGAD--->P<KDLEE--------K---VEQLG--SSLDTL | 640 |
| CNGA4 | IMEEKGREILLKMNKLDVNA-EAAEIA--->L<QEATE--------SR--LRGLD--QQLDDL | 507 |
| CNGB1 | LLRKKARRMLRSNNKPK------EE-K--->-<-SVLILPPRAGTPKL--FNAA--LAMTGKM | 1119 |
| CNGB3 | ILMKKARVLLKQKAKTA-EATPPRK-D--->-<-LALLFPPKEETPKL--FKTL--LGGTGKA | 686 |
| HCN1 | AFETVAIDRLDRIGKKNSIL-LQKFQ---->-<-KDLNT-------GVFNN-Q---ENEILKQ | 624 |
| HCN2 | AFETVAIDRLDRIGKKNSIL-LHKVQ---->-<-HDLNS-------GVFNN-Q---ENAIIQE | 693 |
| HCN3 | AFETVAMDRLLRIGKKNSIL-QRKRS---->-<-EPSPG-----------S-S---GGIMEQH | 573 |
| HCN4 | AFETVALDRLDRIGKKNSIL-LHKVQ---->-<-HDLNS-------GVFNY-Q---ENEIIQQ | 744 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G873S | c.2617G>A | Inherited Arrhythmia | BrS | rs41314354 | SIFT: tolerated Polyphen: benign |
| Reports | Putative Benign | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 | |||
| Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | ||||
| Inherited Arrhythmia | BrS | Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. Cardiovasc Res. 2005 68(3):441-53. 16043162 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Putative Benign | 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 | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||
| p.G873C | c.2617G>T | Putative Benign | SIFT: Polyphen: | ||