Paralogue Annotation for RYR2 residue 520

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 520
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 520

No paralogue variants have been mapped to residue 520 for RYR2.



RYR2QEEGMINLVLECIDRLHVYSSAAHFADVAG>R<EAGESWKSILNSLYELLAALIRGNRKNCAQ550
RYR1QEEGMLSMVLNCIDRLNVYTTAAHFAEFAG>E<EAAESWKEIVNLLYELLASLIRGNRSNCAL538
RYR3KEEGMLALVLNCIDRLNVYNSVAHFAGIAR>E<ESGMAWKEILNLLYKLLAALIRGNRNNCAQ537
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R520Qc.1559G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.R520Lc.1559G>T 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