Paralogue Annotation for RYR2 residue 3230

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3230
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3230

No paralogue variants have been mapped to residue 3230 for RYR2.



RYR2NVEDVCPNIPSLEKLMEEIVELAESGIRYT>Q<MPHVMEVILPMLCSYMSRWWEHGPENNPE-3259
RYR1SVEEMCPDIPVLERLMADIGGLAESGARYT>E<MPHVIEITLPMLCSYLPRWWERGPEAPPSA3295
RYR3TVEDMCPDIPQLEGLMKEINDLAESGARYT>E<MPHVIEVILPMLCNYLSYWWERGPENLPP-3155
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Gln3230Lysc.9688C>A UnknownSIFT:
Polyphen: