Paralogue Annotation for RYR2 residue 2067

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2067
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2067

No paralogue variants have been mapped to residue 2067 for RYR2.



RYR2LKKKQA--EKPVESDSKKSSTLQQLISETM>V<RWAQESVIEDPELVRAMFVLLHRQYDGIGG2097
RYR1VKKKEEKPEEERSAEESKPRSLQELVSHMV>V<RWAQEDFVQSPELVRAMFSLLHRQYDGLGE2133
RYR3PPKPEK--EQPTEEEERCPTTLKELISQTM>I<CWAQEDQIQDSELVRMMFNLLRRQYDSIGE1995
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V2067Ic.6199G>A Putative BenignSIFT: tolerated
Polyphen: benign