Paralogue Annotation for RYR2 residue 3561

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3561
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3561

No paralogue variants have been mapped to residue 3561 for RYR2.



RYR2YKDLPNRTDDTSDPEKTVERVLDIANVLFH>L<EQKSKRVGRRHYCL-VEHPQRSKKAVWHKL3590
RYR1YRGVPGREEDADDPEKIVRRV--------->-<---QEVSAVLYYLDQTEHPYKSKKAVWHKL3623
RYR3YKDVLK-SEEPFNPEKTVERV--------->-<---QRISAAVFHLEQVEQPLRSKKAVWHKL3478
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L3561Vc.10681C>G UnknownSIFT:
Polyphen:
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510