Paralogue Annotation for RYR1 residue 512

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 512
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 512

No paralogue variants have been mapped to residue 512 for RYR1.



RYR1MLSMVLNCIDRLNVYTTAAHFAEFAGEEAA>E<SWKEIVNLLYELLASLIRGNRSNCALFSTN542
RYR2MINLVLECIDRLHVYSSAAHFADVAGREAG>E<SWKSILNSLYELLAALIRGNRKNCAQFSGS554
RYR3MLALVLNCIDRLNVYNSVAHFAGIAREESG>M<AWKEILNLLYKLLAALIRGNRNNCAQFSNN541
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E512Kc.1534G>A Other Myopathyrs118192119SIFT:
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