Paralogue Annotation for RYR2 residue 3809

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3809
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3809

No paralogue variants have been mapped to residue 3809 for RYR2.



RYR2DYLKEKKDVGFFQSLAGLMQSCSVLDLNAF>E<RQNKAEGLGMVTEEGS------GEKVLQDD3833
RYR1DYLKDKKEVGFFQSIQALMQTCSVLDLNAF>E<RQNKAEGLGMVNEDGTVINRQNGEKVMADD3877
RYR3DYLKEKKDAGFFQSLSGLMQSCSVLDLNAF>E<RQNKAEGLGMVTEEGTLIVRERGEKVLQND3729
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3809Gc.11426A>G CardiomyopathyHCMSIFT:
Polyphen:
ReportsCardiomyopathyHCM Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing. Sci Rep. 2015 5:16609. doi: 10.1038/srep16609. 26573135