Paralogue Annotation for RYR2 residue 2068

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2068
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2068

No paralogue variants have been mapped to residue 2068 for RYR2.



RYR2KKKQA--EKPVESDSKKSSTLQQLISETMV>R<WAQESVIEDPELVRAMFVLLHRQYDGIGGL2098
RYR1KKKEEKPEEERSAEESKPRSLQELVSHMVV>R<WAQEDFVQSPELVRAMFSLLHRQYDGLGEL2134
RYR3PKPEK--EQPTEEEERCPTTLKELISQTMI>C<WAQEDQIQDSELVRMMFNLLRRQYDSIGEL1996
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2068Qc.6203G>A UnknownSIFT:
Polyphen: possibly damaging
p.Arg2068Leuc.6203G>T UnknownSIFT:
Polyphen: