Paralogue Annotation for RYR1 residue 4847

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4847
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4847

No paralogue variants have been mapped to residue 4847 for RYR1.



RYR1IAMGVKTLRTILSSVTHNGKQLVMTVGLLA>V<VVYLYTVVAFNFFRKFYNKSEDEDEPDMKC4877
RYR2IAMGFKTLRTILSSVTHNGKQLVLTVGLLA>V<VVYLYTVVAFNFFRKFYNKSEDGDTPDMKC4806
RYR3IAMGFKTLRTILSSVTHNGKQLVLTVGLLA>V<VVYLYTVVAFNFFRKFYNKSEDDDEPDMKC4709
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4847Lc.14539G>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011 58(6):504-13. 21455645
Other Myopathy Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838