Paralogue Annotation for RYR2 residue 2099

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2099
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2099

No paralogue variants have been mapped to residue 2099 for RYR2.



RYR2WAQESVIEDPELVRAMFVLLHRQYDGIGGL>V<RALPKTYTINGVSVEDTINLLASLGQIRSL2129
RYR1WAQEDFVQSPELVRAMFSLLHRQYDGLGEL>L<RALPRAYTISPSSVEDTMSLLECLGQIRSL2165
RYR3WAQEDQIQDSELVRMMFNLLRRQYDSIGEL>L<QALRKTYTISHTSVSDTINLLAALGQIRSL2027
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V2099Ic.6295G>A Putative BenignSIFT:
Polyphen: