Paralogue Annotation for RYR2 residue 2386

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2386
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2386

No paralogue variants have been mapped to residue 2386 for RYR2.



RYR2PSRDGPSPNS-GSSKTLDTEEEEDDTIHMG>N<AIMTFYSALIDLLGRCAPEMHLIHAGKGEA2416
RYR1PARDGPGIRRDRRREHFGEEPPEENRVHLG>H<AIMSFYAALIDLLGRCAPEMHLIQAGKGEA2450
RYR3PALDLPSQGY-KREVSTGDDEEEEEIVHMG>N<AIMSFYSALIDLLGRCAPEMHLIQTGKGEA2313
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See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N2386Ic.7157A>T CardiomyopathyARVD/CSIFT: deleterious
Polyphen: probably damaging
ReportsCardiomyopathyARVD/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
CardiomyopathyARVD/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
CardiomyopathyARVD/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
CardiomyopathyARVD/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