Paralogue Annotation for RYR2 residue 1009

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1009
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1009

No paralogue variants have been mapped to residue 1009 for RYR2.



RYR2APMDLSFIKLTPSQEAMVDKLAENAHNVWA>R<DRIRQGWTYGIQQDVKNRRNPRLVPYTLLD1039
RYR1APLDLSHVRLTPAQTTLVDRLAENGHNVWA>R<DRVGQGWSYSAVQDIPARRNPRLVPYRLLD1027
RYR3APLDLSDVKLLPPQEILVDKLAENAHNVWA>K<DRIKQGWTYGIQQDLKNKRNPRLVPYALLD1026
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1009Wc.3025C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.R1009Qc.3026G>A Putative BenignSIFT:
Polyphen: