Paralogue Annotation for RYR2 residue 3778

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3778
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3778

No paralogue variants have been mapped to residue 3778 for RYR2.



RYR2KGETGPMVAATLKLGIAILNGGNSTVQQKM>L<DYLKEKKDVGFFQSLAGLMQSCSVLDLNAF3808
RYR1KGETGAMVSSTLKLGISILNGGNAEVQQKM>L<DYLKDKKEVGFFQSIQALMQTCSVLDLNAF3846
RYR3KGEMSPMVVETLKLGIAILNGGNAGVQQKM>L<DYLKEKKDAGFFQSLSGLMQSCSVLDLNAF3698
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L3778Fc.11332C>T Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772
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