Paralogue Annotation for RYR1 residue 574

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 574
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 574

No paralogue variants have been mapped to residue 574 for RYR1.



RYR1DWLVSKLDRLEASSGILEVLYCVLIESPEV>L<NIIQENHIKSIISLLDKHGRNHKVLDVLCS604
RYR2DWLISRLERLEASSGILEVLHCVLVESPEA>L<NIIKEGHIKSIISLLDKHGRNHKVLDVLCS616
RYR3DWLISKLDRLESSSGILEVLHCILTESPEA>L<NLIAEGHIKSIISLLDKHGRNHKVLDILCS603
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L574Vc.1720C>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. 23553484