Paralogue Annotation for RYR2 residue 4123

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4123
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4123

No paralogue variants have been mapped to residue 4123 for RYR2.



RYR2DIGFNVAVLLTNLSEHMPNDTRLQTFLELA>E<SVLNYFQPFLGRIEIMGSAKRIERVYFEIS4153
RYR1DIGFNVAVLLTNLSEHVPHDPRLHNFLELA>E<SILEYFRPYLGRIEIMGASRRIERIYFEIS4197
RYR3DIGFNVAVLLTNLSEHMPNDSRLKCLLDPA>E<SVLNYFEPYLGRIEIMGGAKKIERVYFEIS4049
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4123Dc.12369G>C Putative BenignSIFT:
Polyphen: