Paralogue Annotation for RYR1 residue 708

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 708
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 708

No paralogue variants have been mapped to residue 708 for RYR1.

RYR1	ATHLRVGWALTEGYTPYPGAGEGWGGNGVG>D<DLYSYGFDGLHLWTGHVARPVTSPGQHLLA	738
RYR2	ATHLRVGWASTEGYSPYPGGGEEWGGNGVG>D<DLFSYGFDGLHLWSGCIARTVSSPNQHLLR	750
RYR3	PTHLRVGWASSSGYAPYPGGGEGWGGNGVG>D<DLYSYGFDGLHLWSGRIPRAVASINQHLLR	737
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D708N	c.2122G>A	Other Myopathy		rs138874610	SIFT: Polyphen:
Reports		Other Myopathy		Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697
		Other Myopathy		RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787
		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
		Other Myopathy		Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2010 20(3):166-73. doi: 10.1016/j.nmd.2009.12.005. 20080402
		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