No paralogue variants have been mapped to residue 407 for RYR1.
RYR1 | LHQEGHMDDALSLTRCQQEESQAARMIHST>N<GLYNQFIKSLDSFSGKPRGSGPPAGTALPI | 437 |
RYR2 | MHHEGHMDDGISLSRSQHEESRTARVIRST>V<FLFNRFIRGLDALSKKAKA----STVDLPI | 449 |
RYR3 | LHQEGHMDDGLTLQRCQREESQAARIIRNT>T<ALFSQFVSGN-----NRTA----APITLPI | 436 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N407S | c.1220A>G | Putative Benign | rs142961693 | SIFT: Polyphen: benign |