Paralogue Annotation for RYR2 residue 3152

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3152
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3152

No paralogue variants have been mapped to residue 3152 for RYR2.



RYR2ILEDVQVSCYRILTSLYALGTSKSIYVERQ>R<SALGECLAAFAGAFPVAFLETHLDKHNIYS3182
RYR1ILDDVQVSCYRTLCSIYSLGTTKNTYVEKL>R<PALGECLARLAAAMPVAFLEPQLNEYNACS3217
RYR3LLGDVQISCYHILCSLYSLGTGKNIYVERQ>R<PALGECLASLAAAIPVAFLEPTLNRYNPLS3078
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3152Cc.9454C>T Putative Benignrs181105904SIFT: deleterious
Polyphen: probably damaging
p.R3152Lc.9455G>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