Paralogue Annotation for RYR1 residue 2478

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2478
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2478

No paralogue variants have been mapped to residue 2478 for RYR1.



RYR1GEALRIRAILRSLVPLEDLVGIISLPLQIP>T<LGKDGALVQPKMSASFVPDHKASMVLFLDR2508
RYR2GEAIRIRSILRSLIPLGDLVGVISIAFQMP>T<IAKDGNVVEPDMSAGFCPDHKAAMVLFLDR2474
RYR3GEAIRIRSILRSLVPTEDLVGIISIPLKLP>S<LNKDGSVSEPDMAANFCPDHKAPMVLFLDR2371
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T2478Nc.7433C>A Putative BenignSIFT:
Polyphen: benign