Paralogue Annotation for RYR2 residue 4080

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4080
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4080

No paralogue variants have been mapped to residue 4080 for RYR2.



RYR2KAMESHKHYTQSETEFLLSCAETDENETLD>Y<EEFVKRFHEPAKDIGFNVAVLLTNLSEHMP4110
RYR1KAMDSQKQFSGPEIQFLLSCSEADENEMIN>C<EEFANRFQEPARDIGFNVAVLLTNLSEHVP4154
RYR3KAMEGQKQYTQSEIDFLLSCAEADENDMFN>Y<VDFVDRFHEPAKDIGFNVAVLLTNLSEHMP4006
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Tyr4080Cysc.12239A>G UnknownSIFT:
Polyphen: