No paralogue variants have been mapped to residue 2386 for RYR2.
RYR2 | PSRDGPSPNS-GSSKTLDTEEEEDDTIHMG>N<AIMTFYSALIDLLGRCAPEMHLIHAGKGEA | 2416 |
RYR1 | PARDGPGIRRDRRREHFGEEPPEENRVHLG>H<AIMSFYAALIDLLGRCAPEMHLIQAGKGEA | 2450 |
RYR3 | PALDLPSQGY-KREVSTGDDEEEEEIVHMG>N<AIMSFYSALIDLLGRCAPEMHLIQTGKGEA | 2313 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N2386I | c.7157A>T | Cardiomyopathy | ARVD/C | rs121918601 | SIFT: deleterious Polyphen: probably damaging |
Reports | Cardiomyopathy | ARVD/C | Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001 10(3):189-94. 11159936 | ||
Cardiomyopathy | ARVD/C | Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2012 111(6):708-17. doi: 10.1161/CIRCRESAHA.112.273342. 22828895 | |||
Cardiomyopathy | ARVD/C | 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 | |||
Cardiomyopathy | ARVD/C | ATP interacts with the CPVT mutation-associated central domain of the cardiac ryanodine receptor. Biochim Biophys Acta. 2013 1830(10):4426-32. doi: 10.1016/j.bbagen.2013.05.03 23747301 |