No paralogue variants have been mapped to residue 4700 for RYR2.
RYR2 | LGMDKAALDFSDAREKKKPKKDSSLSAVLN>S<IDVKYQMWKLGVVFTDNSFLYLAWYMTMSV | 4730 |
RYR1 | LGMDLATLEITAHNER-KPNPPPGLLTWLM>S<IDVKYQIWKFGVIFTDNSFLYLGWYMVMSL | 4801 |
RYR3 | LGLDKNALDFSPVEET-KA-EAASLVSWLS>S<IDMKYHIWKLGVVFTDNSFLYLAWYTTMSV | 4633 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S4700A | c.14098T>G | Putative Benign | SIFT: Polyphen: |