Paralogue Annotation for RYR2 residue 4197

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4197
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4197

No paralogue variants have been mapped to residue 4197 for RYR2.



RYR2ESKRQFIFDVVNEGGEKEKMELFVNFCEDT>I<FEMQLAAQISESDLNERSANKEESEK----4223
RYR1ESKRQFIFDVVNEGGEAEKMELFVSFCEDT>I<FEMQIAAQISEPEGEPETDEDEGAGAAEAG4271
RYR3ESKRQFIFDVVNEGGEQEKMELFVNFCEDT>I<FEMQLASQISESDSADRPEEEEEDEDSSYV4123
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I4197Vc.12589A>G Putative BenignSIFT:
Polyphen: