Paralogue Annotation for RYR1 residue 3583

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3583
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3583

No paralogue variants have been mapped to residue 3583 for RYR1.

RYR1	LHNNLHLQGKVEGSPSLRWQMALYRGVPGR>E<EDADDPEKIVRRV-------------QEVS	3600
RYR2	IRSNIHLQGKLE-DPAIRWQMALYKDLPNR>T<DDTSDPEKTVERVLDIANVLFHLEQKSKRV	3568
RYR3	LRNNLHLQEKSD-DPAVKWQLNLYKDVLK->S<EEPFNPEKTVERV-------------QRIS	3455
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3583Q	c.10747G>C	Conflict		rs55876273	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
		Other Myopathy		A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013 23329375
		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
		Other Myopathy		Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol. 2015 262(7):1728-40. doi: 10.1007/s00415-015-7757-9. 25957634
				Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395