Paralogue Annotation for RYR1 residue 1704

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1704
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1704

No paralogue variants have been mapped to residue 1704 for RYR1.



RYR1ALGNNRVAHALCSHVDQAQLLHALEDAHLP>G<PLRAGYYDLLISIHLESACRSRRSMLSEYI1734
RYR2ALGNHRVAHALCSHVDEPQLLYAIENKYMP>G<LLRAGYYDLLIDIHLSSYATARLMMNNEYI1726
RYR3ALGNSRVAYALCSHVDLSQLFYAIDNKYLP>G<LLRSGFYDLLISIHLASAKERKLMMKNEYI1630
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1704Sc.5110G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 29(5):670-8. 18253926