No paralogue variants have been mapped to residue 4816 for RYR1.
RYR1 | TDNSFLYLGWYMVMSLLGHYNNFFFAAHLL>D<IAMGVKTLRTILSSVTHNGKQLVMTVGLLA | 4846 |
RYR2 | TDNSFLYLAWYMTMSVLGHYNNFFFAAHLL>D<IAMGFKTLRTILSSVTHNGKQLVLTVGLLA | 4775 |
RYR3 | TDNSFLYLAWYTTMSVLGHYNNFFFAAHLL>D<IAMGFKTLRTILSSVTHNGKQLVLTVGLLA | 4678 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4816H | c.14446G>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. 23553484 |