Paralogue Annotation for RYR2 residue 4002

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4002
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4002

No paralogue variants have been mapped to residue 4002 for RYR2.



RYR2MDLQKDMVVMLLSMLEGNVVNGTIGKQMVD>M<LVESSNNVEMILKFFDMFLKLKDLTSSDTF4032
RYR1LDLQKDMVVMLLSLLEGNVVNGMIARQMVD>M<LVESSSNVEMILKFFDMFLKLKDIVGSEAF4076
RYR3LDLLQDMVVMLLSLLEGNVVNGTIGKQMVD>T<LVESSTNVEMILKFFDMFLKLKDLTSSDTF3928
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M4002Ic.12006G>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086