Paralogue Annotation for RYR2 residue 2050

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2050
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2050

No paralogue variants have been mapped to residue 2050 for RYR2.



RYR2DLTIRGRLLSLVEKVTYLKKKQA--EKPVE>S<DSKKSSTLQQLISETMVRWAQESVIEDPEL2080
RYR1ETTLGSRLMSLLEKVRLVKKKEEKPEEERS>A<EESKPRSLQELVSHMVVRWAQEDFVQSPEL2116
RYR3DTSWTGKLCALVYKIKGPPKPEK--EQPTE>E<EERCPTTLKELISQTMICWAQEDQIQDSEL1978
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S2050Rc.6150T>G Putative BenignSIFT:
Polyphen: