Paralogue Annotation for RYR2 residue 2053

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2053
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2053

No paralogue variants have been mapped to residue 2053 for RYR2.



RYR2IRGRLLSLVEKVTYLKKKQA--EKPVESDS>K<KSSTLQQLISETMVRWAQESVIEDPELVRA2083
RYR1LGSRLMSLLEKVRLVKKKEEKPEEERSAEE>S<KPRSLQELVSHMVVRWAQEDFVQSPELVRA2119
RYR3WTGKLCALVYKIKGPPKPEK--EQPTEEEE>R<CPTTLKELISQTMICWAQEDQIQDSELVRM1981
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K2053Rc.6158A>G Putative BenignSIFT:
Polyphen: