Paralogue Annotation for RYR2 residue 4081

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4081
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4081

No paralogue variants have been mapped to residue 4081 for RYR2.



RYR2AMESHKHYTQSETEFLLSCAETDENETLDY>E<EFVKRFHEPAKDIGFNVAVLLTNLSEHMPN4111
RYR1AMDSQKQFSGPEIQFLLSCSEADENEMINC>E<EFANRFQEPARDIGFNVAVLLTNLSEHVPH4155
RYR3AMEGQKQYTQSEIDFLLSCAEADENDMFNY>V<DFVDRFHEPAKDIGFNVAVLLTNLSEHMPN4007
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4081Kc.12241G>A Putative BenignSIFT:
Polyphen: