No paralogue variants have been mapped to residue 4769 for RYR1.
RYR1 | ELLGMDLATLEITAHNER-KPNPPPGLLTW>L<MSIDVKYQIWKFGVIFTDNSFLYLGWYMVM | 4799 |
RYR2 | ELLGMDKAALDFSDAREKKKPKKDSSLSAV>L<NSIDVKYQMWKLGVVFTDNSFLYLAWYMTM | 4728 |
RYR3 | ELLGLDKNALDFSPVEET-KA-EAASLVSW>L<SSIDMKYHIWKLGVVFTDNSFLYLAWYTTM | 4631 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4769F | c.14305C>T | Putative Benign | SIFT: Polyphen: |