Paralogue Annotation for RYR1 residue 1121

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1121
Reference Amino Acid: Y - Tyrosine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1121

No paralogue variants have been mapped to residue 1121 for RYR1.



RYR1FEAVTTGEMRVGWARPELRPDVELGADELA>Y<VFNGHRGQRWHLGSEPFGRPWQPGDVVGCM1151
RYR2FETVTAGDMRVGWSRPGCQPDQELGSDERA>F<AFDGFKAQRWHQGNEHYGRSWQAGDVVGCM1165
RYR3FEVVTGGDMRVGWARPGCRPDVELGADDQA>F<VFEGNRGQRWHQGSGYFGRTWQPGDVVGCM1151
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y1121Cc.3362A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240