Paralogue Annotation for RYR1 residue 4891

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4891
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4891

No paralogue variants have been mapped to residue 4891 for RYR1.



RYR1RKFYNKSEDEDEPDMKCDDMMTCYLFHMYV>G<VRAGGGIGDEIEDPAGDEYELYRVVFDITF4921
RYR2RKFYNKSEDGDTPDMKCDDMLTCYMFHMYV>G<VRAGGGIGDEIEDPAGDEYEIYRIIFDITF4850
RYR3RKFYNKSEDDDEPDMKCDDMMTCYLFHMYV>G<VRAGGGIGDEIEDPAGDPYEMYRIVFDITF4753
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G4891Rc.14671G>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 10(25):2879-87. 11741831
Other Myopathy The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease. J Gen Physiol. 2003 121(4):277-86. 12642598
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.Gly4891Aspc.14672G>A UnknownSIFT:
Polyphen: