Paralogue Annotation for RYR1 residue 4920

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4920
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4920

No paralogue variants have been mapped to residue 4920 for RYR1.



RYR1VGVRAGGGIGDEIEDPAGDEYELYRVVFDI>T<FFFFVIVILLAIIQGLIIDAFGELRDQQEQ4950
RYR2VGVRAGGGIGDEIEDPAGDEYEIYRIIFDI>T<FFFFVIVILLAIIQGLIIDAFGELRDQQEQ4879
RYR3VGVRAGGGIGDEIEDPAGDPYEMYRIVFDI>T<FFFFVIVILLAIIQGLIIDAFGELRDQQEQ4782
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T4920Nc.14759C>A Other Myopathyrs118192155SIFT:
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.T4920Ic.14759C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265