No paralogue variants have been mapped to residue 4890 for RYR2.
RYR2 | AIIQGLIIDAFGELRDQQEQVKEDMETKCF>I<CGIGNDYFDTVPHGFETHTLQEHNLANYLF | 4920 |
RYR1 | AIIQGLIIDAFGELRDQQEQVKEDMETKCF>I<CGIGSDYFDTTPHGFETHTLEEHNLANYMF | 4991 |
RYR3 | AIIQGLIIDAFGELRDQQEQVREDMETKCF>I<CGIGNDYFDTTPHGFETHTLQEHNLANYLF | 4823 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4890V | c.14668A>G | Putative Benign | SIFT: deleterious Polyphen: benign |