No paralogue variants have been mapped to residue 1704 for RYR1.
RYR1 | ALGNNRVAHALCSHVDQAQLLHALEDAHLP>G<PLRAGYYDLLISIHLESACRSRRSMLSEYI | 1734 |
RYR2 | ALGNHRVAHALCSHVDEPQLLYAIENKYMP>G<LLRAGYYDLLIDIHLSSYATARLMMNNEYI | 1726 |
RYR3 | ALGNSRVAYALCSHVDLSQLFYAIDNKYLP>G<LLRSGFYDLLISIHLASAKERKLMMKNEYI | 1630 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1704S | c.5110G>A | Other Myopathy | rs193922779 | SIFT: Polyphen: | |
Reports | Other 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 |