No paralogue variants have been mapped to residue 148 for KCNH2.
| KCNH2 | ---------------------------TNH>R<GPPTSWLAPGRAKTFRLKLPALLALTARES | 178 |
| KCNH1 | ------------------------------>-<-----------CKGWG-------------- | 149 |
| KCNH3 | ------------------------------>-<-----------WKETGGGRR---------- | 153 |
| KCNH4 | ------------------------------>-<-----------GRGDSNHEN---------- | 154 |
| KCNH5 | ------------------------------>-<-----------TKGWT-------------- | 147 |
| KCNH6 | ------------------------------>-<------LAKCSSRSLSQRLLSQSFLGSEGS | 159 |
| KCNH7 | ----------------------------N->-<--PILPIKTVNRKFFGFKFPGLRVLTYRKQ | 173 |
| KCNH8 | ------------------------------>-<--------------DKKEDK---------- | 149 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | DEEEEEEEEEEEEEEEVTEVLLDSCVVSQV>G<VGQSEEDGTRPQSTSDQKLWEEVGEEAKKE | 416 |
| CNGB3 | IGENNENEQS-------------------->-<-SRRNEEGSHPSNQSQQ----TTAQEENKG | 48 |
| HCN1 | ------------------------------>-<-----------PAGG---F----------- | 81 |
| HCN2 | ------------------------------>-<-----------EAGSEEAG----------- | 150 |
| HCN3 | ------------------------------>-<------------------G----------- | 41 |
| HCN4 | ------------------------------>-<------------AAGDQIL----------- | 201 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R148W | c.442C>T | Conflict | rs139544114 | SIFT: deleterious Polyphen: possibly damaging | |
| Reports | Inherited Arrhythmia | LQTS | Contribution of long-QT syndrome genetic variants in sudden infant death syndrome. Pediatr Cardiol. 2009 30(4):502-9. 19322600 | ||
| 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 | ||||
| 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 | Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283 | |||
| 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 | |||
| Inherited Arrhythmia | LQTS | The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT. Gene. 2014 536(2):348-56. doi: 10.1016/j.gene.2013.11.072. 24334129 | |||
| 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 | ||||
| Inherited Arrhythmia | LQTS | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | |||
| p.R148Q | c.443G>A | Putative Benign | rs374912424 | SIFT: tolerated Polyphen: benign | |