Paralogue Annotation for RYR1 residue 60

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 60
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 60

No paralogue variants have been mapped to residue 60 for RYR1.



RYR1EQLKLCLAAEGFGNRLCFLEPTSNAQNVPP>D<LAICCFVLEQSLSVRALQEMLANTVEAG--88
RYR2EQQKLCLAAEGFGNRLCFLESTSNSKNVPP>D<LSICTFVLEQSLSVRALQEMLANTVEKSEG91
RYR3EQRKFCLAAEGLGNRLCFLEPTSEAKYIPP>D<LCVCNFVLEQSLSVRALQEMLANTGENG-G91
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D60Yc.178G>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014 9(1):8. doi: 10.1186/1750-1172-9-8. 24433488
p.D60Nc.178G>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
Other Myopathy Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013 4:1506. doi: 10.1038/ncomms2501. 23422674
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146