Paralogue Annotation for RYR1 residue 1707

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1707
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1707

No paralogue variants have been mapped to residue 1707 for RYR1.



RYR1NNRVAHALCSHVDQAQLLHALEDAHLPGPL>R<AGYYDLLISIHLESACRSRRSMLSEYIVPL1737
RYR2NHRVAHALCSHVDEPQLLYAIENKYMPGLL>R<AGYYDLLIDIHLSSYATARLMMNNEYIVPM1729
RYR3NSRVAYALCSHVDLSQLFYAIDNKYLPGLL>R<SGFYDLLISIHLASAKERKLMMKNEYIIPI1633
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1707Hc.5120G>A Other Myopathyrs371566475SIFT: 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