No paralogue variants have been mapped to residue 1051 for RYR2.
RYR2 | QQDVKNRRNPRLVPYTLLDDRTKKSNKDSL>R<EAVRTLLGYGYNLEAPDQDHAARAEVCSGT | 1081 |
RYR1 | VQDIPARRNPRLVPYRLLDEATKRSNRDSL>C<QAVRTLLGYGYNIEPPDQEP-SQVEN-QSR | 1067 |
RYR3 | QQDLKNKRNPRLVPYALLDERTKKSNRDSL>R<EAVRTFVGYGYNIEPSDQEL-ADSAVEKVS | 1067 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1051H | c.3152G>A | Putative Benign | rs79457258 | SIFT: tolerated Polyphen: probably damaging | |
Reports | Unknown | The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780 | |||
p.R1051P | c.3152G>C | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. BMC Med Genet. 2009 10:12. 19216760 | ||
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.R1051C | c.3151C>T | Putative Benign | SIFT: Polyphen: | ||
Reports | 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 |