Paralogue Annotation for RYR2 residue 2216

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2216
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2216

No paralogue variants have been mapped to residue 2216 for RYR2.



RYR2EITFPKMVANCCRFLCYFCRISRQNQKAMF>D<HLSYLLENSSVGLASPAMRGSTPLDVAAAS2246
RYR1EIRFPKMVTSCCRFLCYFCRISRQNQRSMF>D<HLSYLLENSGIG--L-GMQGSTPLDVAAAS2279
RYR3QIAFPKMVASCCRFLCYFCRISRQNQKAMF>E<HLSYLLENSSVGLASPSMRGSTPLDVAASS2143
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D2216Vc.6647A>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015
Inherited ArrhythmiaCPVT 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