No paralogue variants have been mapped to residue 33 for RYR1.
RYR1 | AE-GEDEVQFLRTDDEVVLQCSATVLKEQL>K<LCLAAEGFGNRLCFLEPTSNAQNVPPDLAI | 63 |
RYR2 | GE-GEDEIQFLRTDDEVVLQCTATIHKEQQ>K<LCLAAEGFGNRLCFLESTSNSKNVPPDLSI | 64 |
RYR3 | GEGGEDEIQFLRTEDEVVLQCIATIHKEQR>K<FCLAAEGLGNRLCFLEPTSEAKYIPPDLCV | 65 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K33E | c.97A>G | Other Myopathy | rs193922746 | SIFT: Polyphen: | |
Reports | Other Myopathy | King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. Neurology. 2008 71(10):776-7. 18765655 |