No paralogue variants have been mapped to residue 4448 for RYR1.
RYR1 | GAGDEEEAVHEAGPGGADGAVAVTDGGPFR>P<EGAGGLGDMGDTTPAEPPTPEGSP-ILKRK | 4477 |
RYR2 | ELTEESDLLSD-----IFGLDLKREGGQYK>L<IPHNPNAGLSDLMSN-PVPMPE-V-QEKFQ | 4420 |
RYR3 | GEKGDTDIMSD-----LFGLHPKKEGS-LK>H<GPEVGLGDLSEIIGKDEPPTLESTVQKKRK | 4324 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Pro4448Ser | c.13342C>T | Unknown | SIFT: Polyphen: |