No paralogue variants have been mapped to residue 395 for RYR2.
RYR2 | HVDTGLWLTYQSVDVKSVRMGSIQRKAIMH>H<EGHMDDGISLSRSQHEESRTARVIRSTVFL | 425 |
RYR1 | HVASGLWLTYAAPDPKALRLGVLKKKAMLH>Q<EGHMDDALSLTRCQQEESQAARMIHSTNGL | 409 |
RYR3 | HIASGLWVTYKAQDAKTSRLGPLKRKVILH>Q<EGHMDDGLTLQRCQREESQAARIIRNTTAL | 417 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H395Y | c.1183C>T | Putative Benign | SIFT: Polyphen: |