No paralogue variants have been mapped to residue 3202 for RYR1.
RYR1 | IYSLGTTKNTYVEKLRPALGECLARLAAAM>P<VAFLEPQLNEYNACSVYTTKSPRERAILGL | 3232 |
RYR2 | LYALGTSKSIYVERQRSALGECLAAFAGAF>P<VAFLETHLDKHNIYSIYNTKSSRERAALSL | 3197 |
RYR3 | LYSLGTGKNIYVERQRPALGECLASLAAAI>P<VAFLEPTLNRYNPLSVFNTKTPRERSILGM | 3093 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P3202L | c.9605C>T | 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 |