Paralogue Annotation for RYR1 residue 2730

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2730
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2730

No paralogue variants have been mapped to residue 2730 for RYR1.



RYR1MPCLCAIAGALPPDYVDASYSSKAEKKATV>D<AEGNFDPRPVETLNVIIPEKLDSFINKFAE2760
RYR2LPCLSAVAGALPPDYMESNYVSMMEKQSSM>D<SEGNFNPQPVDTSNITIPEKLEYFINKYAE2726
RYR3LPCLSAIAGALPPDYLDTRITATLEKQISV>D<ADGNFDPKPINTMNFSLPEKLEYIVTKYAE2623
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D2730Gc.8189A>G Other Myopathyrs112196644SIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
Other Myopathy Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329
p.D2730Hc.8188G>C Other Myopathyrs193922827SIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943