No paralogue variants have been mapped to residue 347 for KCNH2.
| KCNH2 | SDSDLVRYR---TISKIPQITLNFVDLKGD>P<FLASP-T-SDREII-AP-KIK-E--R-THN | 369 |
| KCNH1 | ------KFA------------------RLT>R<ALTSS-R-GVLQQL-APS-VQKG--E-NVH | 179 |
| KCNH3 | -------S------------------KGFN>A<NRRRS-R-AVLYHL-SGH-LQK---Q-PKG | 187 |
| KCNH4 | -------A-----------------TWKFR>S<ARRRS-R-TVLHRL-TGH-FGR---R-GQG | 189 |
| KCNH5 | ------KFA------------------RLT>R<ALTNS-R-SVLQQL-TPM-NKT---E-VVH | 176 |
| KCNH6 | --TGRGKYR---TISQIPQFTLNFVEFNLE>K<HRSSS-T-TEIEII-APHKVV-E--R-TQN | 218 |
| KCNH7 | SDSNLNKYS---TINKIPQLTLNFSEVKTE>K<KNSSPPS-SDKTII-AP-KVK-D--R-THN | 369 |
| KCNH8 | -------A-----------------GTHFD>S<ARRRS-R-AVLYHI-SGH-LQR---R-EKN | 184 |
| CNGA1 | -----------------------KKK-KKK>E<KKSKS-D-DKNENKNDPE-KK--------- | 129 |
| CNGA2 | -----------------------FLE-RFR>G<PELQT-V-TTQEGDGKG--D---------- | 116 |
| CNGA3 | -----------------------FPD-RFR>G<AELKE-V-SSQESNAQ-A-NVGS--QEPAD | 128 |
| CNGA4 | ------------------------------>-<-KVKT-T-ES-------------------- | 12 |
| CNGB1 | LQELVKLFKERTEKV-KEKLIDPDVTSDEE>-<SPKPSPA-KKAPEP-APD-TKPAEAE-PVE | 622 |
| CNGB3 | LHNLVKRMRQRTALY-KKKLVEGDLSS--->-<-PEASPQ-TAKPTA-VPP-VKES--D-DKP | 180 |
| HCN1 | ---------------------------EDA>E<GPR-R-QYGFMQRQ--FT-SM----L-QPG | 105 |
| HCN2 | ---------------------------PAG>E<PRG-S-QASFMQRQ--FG-AL----L-QPG | 174 |
| HCN3 | ---------------------------PE->-<----P-----KRRH--LG-TL----L-QPT | 56 |
| HCN4 | ---------------------------PEA>E<VRL-G-QAGFMQRQ--FG-AM----L-QPG | 225 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P347S | c.1039C>T | Conflict | rs138776684 | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | |||
| 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 | LQTS | Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488 | |||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Other Cardiac Phenotype | Mutation analysis ion channel genes ventricular fibrillation survivors with coronary artery disease. Pacing Clin Electrophysiol. 2011 34(6):742-9. doi: 10.1111/j.1540-8159.2011.03045.x 21410720 | ||||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| 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 | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| Inherited Arrhythmia | LQTS | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
| 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 | ||||
| Inherited Arrhythmia | LQTS | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 | |||
| 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 | ||||