Paralogue Annotation for RYR2 residue 3223

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3223
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3223

No paralogue variants have been mapped to residue 3223 for RYR2.



RYR2AALSLPTNVEDVCPNIPSLEKLMEEIVELA>E<SGIRYTQMPHVMEVILPMLCSYMSRWWEHG3253
RYR1AILGLPNSVEEMCPDIPVLERLMADIGGLA>E<SGARYTEMPHVIEITLPMLCSYLPRWWERG3288
RYR3SILGMPDTVEDMCPDIPQLEGLMKEINDLA>E<SGARYTEMPHVIEVILPMLCNYLSYWWERG3149
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3223Dc.9669G>C Putative BenignSIFT: tolerated
Polyphen: benign
p.E3223Kc.9667G>A Putative BenignSIFT: tolerated
Polyphen: possibly damaging