Paralogue Annotation for RYR1 residue 759

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 759
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 759

No paralogue variants have been mapped to residue 759 for RYR1.

RYR1	VTSPGQHLLAPEDVISCCLDLSVPSISFRI>N<GCPVQGVFESFNLDGLFFPVVSFSAGVKVR	789
RYR2	VSSPNQHLLRTDDVISCCLDLSAPSISFRI>N<GQPVQGMFENFNIDGLFFPVVSFSAGIKVR	801
RYR3	VASINQHLLRSDDVVSCCLDLGVPSISFRI>N<GQPVQGMFENFNTDGLFFPVMSFSAGVKVR	788
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N759D	c.2275A>G	Other Myopathy		rs147320363	SIFT: Polyphen: probably damaging
Reports		Other Myopathy		Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. 23553484
		Other Myopathy		Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265
		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		Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594