Paralogue Annotation for RYR2 residue 3978

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3978
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3978

No paralogue variants have been mapped to residue 3978 for RYR2.



RYR2LHVFAHMQMKLSQDSSQIELLKELMDLQKD>M<VVMLLSMLEGNVVNGTIGKQMVDMLVESSN4008
RYR1LHVFAHMMMKLAQDSSQIELLKELLDLQKD>M<VVMLLSLLEGNVVNGMIARQMVDMLVESSS4052
RYR3LHVFANMQMKLSQDSSQIELLKELLDLLQD>M<VVMLLSLLEGNVVNGTIGKQMVDTLVESST3904
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M3978Ic.11934G>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER). Circulation. 2009 120(4):278-85. 19597050
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