Paralogue Annotation for RYR2 residue 4090

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4090
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4090

No paralogue variants have been mapped to residue 4090 for RYR2.



RYR2QSETEFLLSCAETDENETLDYEEFVKRFHE>P<AKDIGFNVAVLLTNLSEHMPNDTRLQTFLE4120
RYR1GPEIQFLLSCSEADENEMINCEEFANRFQE>P<ARDIGFNVAVLLTNLSEHVPHDPRLHNFLE4164
RYR3QSEIDFLLSCAEADENDMFNYVDFVDRFHE>P<AKDIGFNVAVLLTNLSEHMPNDSRLKCLLD4016
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Pro4090Serc.12268C>T UnknownSIFT:
Polyphen: