No paralogue variants have been mapped to residue 1047 for KCNH2.
| KCNH2 | LN----IPL-SSPGRRPRGDV-ESRLDALQ>R<QLNRLETRLSADMATVLQ------------ | 1065 |
| KCNH1 | ME----TLP-E------RTKA-S-----GE>A<TLKKTDSCDSGITKSDLR------------ | 890 |
| KCNH3 | SSPSPGPES-G----LLTVPH-GPSEARNT>D<TLDKLRQAVTELSEQVLQ------------ | 894 |
| KCNH4 | QA----PPT-GTRP-SPELAS-EAEEVK-->E<KVCRLNQEISRLNQEVSQ------------ | 896 |
| KCNH5 | MG----LLS-EDPKSSDSENS-V-----TK>N<PLRKTDSCDSGITKSDLR------------ | 874 |
| KCNH6 | AL----VPI-ASETTSPGPRL-P------Q>G<FLPPAQTPSYGDLDDCSP------------ | 909 |
| KCNH7 | ------------ESDLTYGEV-EQRLDLLQ>E<QLNRLESQMTTDIQTILQ------------ | 1058 |
| KCNH8 | SP-----PLGDPEIGAAVLFI-KAEETK-->Q<QINKLNSEVTTLTQEVSQ------------ | 883 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | G------SP-PSSPPPAS------------>-<------------------------------ | 1204 |
| CNGB3 | S------PI-AVEEEPHS------------>-<------------------------------ | 769 |
| HCN1 | PQPQTPG---S--STPKNEVH-KSTQALHN>T<NLTREVRPLSASQPSLPHEVSTLISRPHPT | 807 |
| HCN2 | -------------PYGGLPAAPLAGPALPA>R<RLSRASRPLSASQPSLPHGAPGPAASTRPA | 841 |
| HCN3 | LG--PP---------P----------GGGG>R<RLGPRGRPLSASQPSLPQRATGDGSPGRKG | 733 |
| HCN4 | LL--PPASS-P--PPPQVPQR-RGTPPLTP>G<RLTQDLKLISASQPALPQDGAQTLRRASPH | 1107 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1047L | c.3140G>T | Conflict | rs36210421 | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Inherited Arrhythmia | LQTS | Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem. 2001 47(8):1390-5. 11468227 | ||
| 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 | ||||
| Other Cardiac Phenotype | Role of a KCNH2 polymorphism (R1047 L) in dofetilide-induced Torsades de Pointes. J Mol Cell Cardiol. 2004 37(5):1031-9. 15522280 | ||||
| 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 | ||||
| Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | ||||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Inherited Arrhythmia | LQTS | Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition. Heart Rhythm. 2007 4(2):170-4. 17275752 | |||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| p.R1047C | c.3139C>T | Inherited Arrhythmia | LQTS | rs377095107 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531 | ||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||