No paralogue variants have been mapped to residue 4390 for RYR2.
RYR2 | DLKELTEESDLLSD-----IFGLDLKREGG>Q<YKLIPHNPNAGLSDLMSN-PVPMPE-V-QE | 4417 |
RYR1 | AAEGAGDEEEAVHEAGPGGADGAVAVTDGG>P<FRPEGAGGLGDMGDTTPAEPPTPEGSP-IL | 4474 |
RYR3 | FIKGEKGDTDIMSD-----LFGLHPKKEGS>-<LKHGPEVGLGDLSEIIGKDEPPTLESTVQK | 4321 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q4390R | c.13169A>G | Putative Benign | SIFT: Polyphen: |