No paralogue variants have been mapped to residue 4451 for RYR1.
RYR1 | DEEEAVHEAGPGGADGAVAVTDGGPFRPEG>A<GGLGDMGDTTPAEPPTPEGSP-ILKRKLGV | 4480 |
RYR2 | EESDLLSD-----IFGLDLKREGGQYKLIP>H<NPNAGLSDLMSN-PVPMPE-V-QEKFQEQ- | 4422 |
RYR3 | GDTDIMSD-----LFGLHPKKEGS-LKHGP>E<VGLGDLSEIIGKDEPPTLESTVQKKRKA-- | 4325 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala4451Asp | c.13352C>A | Unknown | SIFT: Polyphen: |