Paralogue Annotation for RYR2 residue 3227

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3227
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3227

No paralogue variants have been mapped to residue 3227 for RYR2.



RYR2LPTNVEDVCPNIPSLEKLMEEIVELAESGI>R<YTQMPHVMEVILPMLCSYMSRWWEHGPENN3257
RYR1LPNSVEEMCPDIPVLERLMADIGGLAESGA>R<YTEMPHVIEITLPMLCSYLPRWWERGPEAP3292
RYR3MPDTVEDMCPDIPQLEGLMKEINDLAESGA>R<YTEMPHVIEVILPMLCNYLSYWWERGPENL3153
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3227Cc.9679C>T Putative BenignSIFT:
Polyphen:
p.R3227Hc.9680G>A Putative BenignSIFT:
Polyphen: