No paralogue variants have been mapped to residue 4181 for RYR1.
RYR1 | EHVPHDPRLHNFLELAESILEYFRPYLGRI>E<IMGASRRIERIYFEISETNRAQWEMPQVKE | 4211 |
RYR2 | EHMPNDTRLQTFLELAESVLNYFQPFLGRI>E<IMGSAKRIERVYFEISESSRTQWEKPQVKE | 4167 |
RYR3 | EHMPNDSRLKCLLDPAESVLNYFEPYLGRI>E<IMGGAKKIERVYFEISESSRTQWEKPQVKE | 4063 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4181K | c.12541G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol. 2011 37(3):271-84. doi: 10.1111/j.1365-2990.2010.01149. 21062345 |