No paralogue variants have been mapped to residue 4664 for RYR1.
RYR1 | EESTGYMEPALRCLSLLHTLVAFLCIIGYN>C<LKVPLVIFKREKELARKLEFDGLYITEQPE | 4694 |
RYR2 | EESSGYMEPTLRILAILHTVISFFCIIGYY>C<LKVPLVIFKREKEVARKLEFDGLYITEQPS | 4622 |
RYR3 | QESTGYMAPTLRALAIIHTIISLVCVVGYY>C<LKVPLVVFKREKEIARKLEFDGLYITEQPS | 4527 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C4664R | c.13990T>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009 30(4):E575-90. 19191333 |