Paralogue Annotation for RYR1 residue 707

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 707
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 707

No paralogue variants have been mapped to residue 707 for RYR1.



RYR1QATHLRVGWALTEGYTPYPGAGEGWGGNGV>G<DDLYSYGFDGLHLWTGHVARPVTSPGQHLL737
RYR2EATHLRVGWASTEGYSPYPGGGEEWGGNGV>G<DDLFSYGFDGLHLWSGCIARTVSSPNQHLL749
RYR3EPTHLRVGWASSSGYAPYPGGGEGWGGNGV>G<DDLYSYGFDGLHLWSGRIPRAVASINQHLL736
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G707Sc.2119G>A Other Myopathyrs376526576SIFT: deleterious
Polyphen: probably damaging
ReportsOther Myopathy Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265
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