Paralogue Annotation for RYR1 residue 2482

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2482
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2482

No paralogue variants have been mapped to residue 2482 for RYR1.



RYR1RIRAILRSLVPLEDLVGIISLPLQIPTLGK>D<GALVQPKMSASFVPDHKASMVLFLDRVYGI2512
RYR2RIRSILRSLIPLGDLVGVISIAFQMPTIAK>D<GNVVEPDMSAGFCPDHKAAMVLFLDRVYGI2478
RYR3RIRSILRSLVPTEDLVGIISIPLKLPSLNK>D<GSVSEPDMAANFCPDHKAPMVLFLDRVYGI2375
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D2482Nc.7444G>A Putative BenignSIFT:
Polyphen:
p.D2482Gc.7445A>G Putative BenignSIFT:
Polyphen: