Paralogue Annotation for RYR2 residue 929

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 929
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 929

No paralogue variants have been mapped to residue 929 for RYR2.



RYR2ELGWQYGPVRDDNKRQHPCLVEFSKLPEQE>R<NYNLQMSLETLKTLLALGCHVGISDEHAED959
RYR1EQGWTYGPVRDDNKRLHPCLVDFHSLPEPE>R<NYNLQMSGETLKTLLALGCHVGMADEKAED947
RYR3ELGWTFGKIRDDNKRQHPCLVEFSKLPETE>K<NYNLQMSTETLKTLLALGCHIAHVNPAAEE946
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R929Hc.2786G>A 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
p.Arg929Hisc.2786G>A UnknownSIFT:
Polyphen: