No paralogue variants have been mapped to residue 389 for RYR1.
RYR1 | AAPDPKALRLGVLKKKAMLHQEGHMDDALS>L<TRCQQEESQAARMIHSTNGLYNQFIKSLDS | 419 |
RYR2 | QSVDVKSVRMGSIQRKAIMHHEGHMDDGIS>L<SRSQHEESRTARVIRSTVFLFNRFIRGLDA | 435 |
RYR3 | KAQDAKTSRLGPLKRKVILHQEGHMDDGLT>L<QRCQREESQAARIIRNTTALFSQFVSGN-- | 425 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L389M | c.1165C>A | Putative Benign | rs148587119 | SIFT: Polyphen: probably damaging |