Paralogue Annotation for RYR1 residue 2453

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2453
Reference Amino Acid: I - Isoleucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2453

No paralogue variants have been mapped to residue 2453 for RYR1.



RYR1MSFYAALIDLLGRCAPEMHLIQAGKGEALR>I<RAILRSLVPLEDLVGIISLPLQIPTLGKDG2483
RYR2MTFYSALIDLLGRCAPEMHLIHAGKGEAIR>I<RSILRSLIPLGDLVGVISIAFQMPTIAKDG2449
RYR3MSFYSALIDLLGRCAPEMHLIQTGKGEAIR>I<RSILRSLVPTEDLVGIISIPLKLPSLNKDG2346
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I2453Tc.7358T>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy [Current aspects of the diagnosis of malignant hyperthermia]. Anaesthesist. 2002 51(11):904-13. 12434264
Other Myopathy A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. Am J Med Genet A. 2004 124A(3):248-54. 14708096
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.I2453Vc.7357A>G Putative BenignSIFT:
Polyphen: