Paralogue Annotation for RYR1 residue 3584

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3584
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3584

No paralogue variants have been mapped to residue 3584 for RYR1.



RYR1HNNLHLQGKVEGSPSLRWQMALYRGVPGRE>E<DADDPEKIVRRV-------------QEVSA3601
RYR2RSNIHLQGKLE-DPAIRWQMALYKDLPNRT>D<DTSDPEKTVERVLDIANVLFHLEQKSKRVG3569
RYR3RNNLHLQEKSD-DPAVKWQLNLYKDVLK-S>E<EPFNPEKTVERV-------------QRISA3456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3584Qc.10750G>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943