Paralogue Annotation for RYR1 residue 4793

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4793
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4793

No paralogue variants have been mapped to residue 4793 for RYR1.



RYR1PGLLTWLMSIDVKYQIWKFGVIFTDNSFLY>L<GWYMVMSLLGHYNNFFFAAHLLDIAMGVKT4823
RYR2SSLSAVLNSIDVKYQMWKLGVVFTDNSFLY>L<AWYMTMSVLGHYNNFFFAAHLLDIAMGFKT4752
RYR3ASLVSWLSSIDMKYHIWKLGVVFTDNSFLY>L<AWYTTMSVLGHYNNFFFAAHLLDIAMGFKT4655
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L4793Pc.14378T>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet. 2001 10(22):2581-92. 11709545
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146