Paralogue Annotation for RYR1 residue 879

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 879
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 879

No paralogue variants have been mapped to residue 879 for RYR1.



RYR1DFVPCPVDTVQIVLPPHLERIREKLAENIH>E<LWALTRIEQGWTYGPVRDDNKRLHPCLVDF909
RYR2AFTPIPVDTSQIVLPPHLERIREKLAENIH>E<LWVMNKIELGWQYGPVRDDNKRQHPCLVEF921
RYR3SFIPCPVDTSQVILPPHLEKIRDRLAENIH>E<LWGMNKIELGWTFGKIRDDNKRQHPCLVEF908
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E879Kc.2635G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697
Other Myopathy RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787