No paralogue variants have been mapped to residue 12 for RYR1.
RYR1 | MGD-AE-GEDEVQ>F<LRTDDEVVLQCSATVLKEQLKLCLAAEGFG | 42 |
RYR2 | MADGGE-GEDEIQ>F<LRTDDEVVLQCTATIHKEQQKLCLAAEGFG | 43 |
RYR3 | MAEGGEGGEDEIQ>F<LRTEDEVVLQCIATIHKEQRKFCLAAEGLG | 44 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F12L | c.34T>C | Putative Benign | rs370115856 | SIFT: deleterious Polyphen: possibly damaging |