Paralogue Annotation for RYR2 residue 1059

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1059
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1059

No paralogue variants have been mapped to residue 1059 for RYR2.



RYR2NPRLVPYTLLDDRTKKSNKDSLREAVRTLL>G<YGYNLEAPDQDHAARAEVCSGTGERFRIFR1089
RYR1NPRLVPYRLLDEATKRSNRDSLCQAVRTLL>G<YGYNIEPPDQEP-SQVEN-QSRCDRVRIFR1075
RYR3NPRLVPYALLDERTKKSNRDSLREAVRTFV>G<YGYNIEPSDQEL-ADSAVEKVSIDKIRFFR1075
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1059Ec.3176G>A Putative BenignSIFT: tolerated
Polyphen: probably damaging