Paralogue Annotation for RYR1 residue 3539

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3539
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3539

No paralogue variants have been mapped to residue 3539 for RYR1.

RYR1	LIVATLKKMLPIGLNMCAPTDQDLITLAKT>R<YALKDTDEEVREFLHNNLHLQGKVEGSPSL	3569
RYR2	LIVAALKRLLPIGLNICAPGDQELIALAKN>R<FSLKDTEDEVRDIIRSNIHLQGKLE-DPAI	3524
RYR3	LIVAALKKMLPIGLNMCTPGDQELISLAKS>R<YSHRDTDEEVREHLRNNLHLQEKSD-DPAV	3425
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3539H	c.10616G>A	Other Myopathy		rs143987857	SIFT: Polyphen:
Reports		Other Myopathy		Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935
		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		Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
		Other Myopathy		Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946
		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
		Other Myopathy		Congenital myopathy with focal loss of cross-striations revisited. Neuromuscul Disord. 2013 23(2):160-4. doi: 10.1016/j.nmd.2012.08.010. 23127960
		Other Myopathy		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
		Other Myopathy		Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594