No paralogue variants have been mapped to residue 2095 for RYR1.
RYR1 | SLLEKVRLVKKKEEKPEEERSAEESKPRSL>Q<ELVSHMVVRWAQEDFVQSPELVRAMFSLLH | 2125 |
RYR2 | SLVEKVTYLKKKQA--EKPVESDSKKSSTL>Q<QLISETMVRWAQESVIEDPELVRAMFVLLH | 2089 |
RYR3 | ALVYKIKGPPKPEK--EQPTEEEERCPTTL>K<ELISQTMICWAQEDQIQDSELVRMMFNLLR | 1987 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q2095K | c.6283C>A | Putative Benign | SIFT: Polyphen: |