Paralogue Annotation for RYR2 residue 2262

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2262
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2262

No paralogue variants have been mapped to residue 2262 for RYR2.



RYR2PAMRGSTPLDVAAASVMDNNELALALREPD>L<EKVVRYLAGCGLQSCQMLVSKGYPDIGWNP2292
RYR1-GMQGSTPLDVAAASVIDNNELALALQEQD>L<EKVVSYLAGCGLQSCPMLVAKGYPDIGWNP2325
RYR3PSMRGSTPLDVAASSVMDNNELALSLEEPD>L<EKVVTYLAGCGLQSCPMLLAKGYPDVGWNP2189
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L2262Vc.6784C>G Putative BenignSIFT:
Polyphen: