No paralogue variants have been mapped to residue 4397 for RYR2.
RYR2 | ESDLLSD-----IFGLDLKREGGQYKLIPH>N<PNAGLSDLMSN-PVPMPE-V-QEKFQEQ-- | 4422 |
RYR1 | EEEAVHEAGPGGADGAVAVTDGGPFRPEGA>G<GLGDMGDTTPAEPPTPEGSP-ILKRKLGVD | 4481 |
RYR3 | DTDIMSD-----LFGLHPKKEGS-LKHGPE>V<GLGDLSEIIGKDEPPTLESTVQKKRKA--- | 4325 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N4397K | c.13191T>A | Putative Benign | SIFT: Polyphen: |