Paralogue Annotation for RYR1 residue 4631

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4631
Reference Amino Acid: Y - Tyrosine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4631

No paralogue variants have been mapped to residue 4631 for RYR1.



RYR1SGAGSGGSSGW-GLGAGEEAEGDEDENMVY>Y<FLEESTGYMEPALRCLSLLHTLVAFLCIIG4661
RYR2TRSSSENAK-VTSLDS-----SSHRIIAVH>Y<VLEESSGYMEPTLRILAILHTVISFFCIIG4589
RYR3ANLWN-------SFND-----EEEEEAMVF>F<VLQESTGYMAPTLRALAIIHTIISLVCVVG4494
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y4631Nc.13891T>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.Y4631Cc.13892A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697