Paralogue Annotation for RYR1 residue 4918

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4918
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4918

No paralogue variants have been mapped to residue 4918 for RYR1.



RYR1MYVGVRAGGGIGDEIEDPAGDEYELYRVVF>D<ITFFFFVIVILLAIIQGLIIDAFGELRDQQ4948
RYR2MYVGVRAGGGIGDEIEDPAGDEYEIYRIIF>D<ITFFFFVIVILLAIIQGLIIDAFGELRDQQ4877
RYR3MYVGVRAGGGIGDEIEDPAGDPYEMYRIVF>D<ITFFFFVIVILLAIIQGLIIDAFGELRDQQ4780
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D4918Nc.14752G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. Neuromuscul Disord. 2013 23(2):120-32. doi: 10.1016/j.nmd.2012.08.007. 23183335