No paralogue variants have been mapped to residue 4144 for RYR2.
| RYR2 | RLQTFLELAESVLNYFQPFLGRIEIMGSAK>R<IERVYFEISESSRTQWEKPQVKESKRQFIF | 4174 |
| RYR1 | RLHNFLELAESILEYFRPYLGRIEIMGASR>R<IERIYFEISETNRAQWEMPQVKESKRQFIF | 4218 |
| RYR3 | RLKCLLDPAESVLNYFEPYLGRIEIMGGAK>K<IERVYFEISESSRTQWEKPQVKESKRQFIF | 4070 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R4144C | c.12430C>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | ||
| Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 | |||
| p.R4144S | c.12430C>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases. Int J Legal Med. 2015 129(4):793-800. doi: 10.1007/s00414-014-1105-y. 25467552 | |||