Paralogue Annotation for RYR1 residue 4502

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4502
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4502

No paralogue variants have been mapped to residue 4502 for RYR1.



RYR1-ILKRKLGVDGVEEELPPEPEPEPEPELEP>E<KADAENGEKEEVPEPTPEPPKKQ-------4525
RYR2-QEKFQEQ--KA---KEEEKEEKEETKSEP>E<KAEGEDGEKEEKAKEDKGKQKLR-------4463
RYR3VQKKRKA---QA---AEMKAANEAEGKVES>E<KADMEDGEKEDKDKEEEQAEYLWTEVTKKK4373
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4502Gc.13505A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381