No paralogue variants have been mapped to residue 403 for RYR2.
RYR2 | TYQSVDVKSVRMGSIQRKAIMHHEGHMDDG>I<SLSRSQHEESRTARVIRSTVFLFNRFIRGL | 433 |
RYR1 | TYAAPDPKALRLGVLKKKAMLHQEGHMDDA>L<SLTRCQQEESQAARMIHSTNGLYNQFIKSL | 417 |
RYR3 | TYKAQDAKTSRLGPLKRKVILHQEGHMDDG>L<TLQRCQREESQAARIIRNTTALFSQFVSGN | 425 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I403V | c.1207A>G | Putative Benign | rs142797573 | SIFT: deleterious Polyphen: benign | |
p.I403L | c.1207A>C | Putative Benign | SIFT: tolerated Polyphen: benign |