No paralogue variants have been mapped to residue 3860 for RYR1.
RYR1 | SIQALMQTCSVLDLNAFERQNKAEGLGMVN>E<DGTVINRQNGEKVMADDEFTQDLFRFLQLL | 3890 |
RYR2 | SLAGLMQSCSVLDLNAFERQNKAEGLGMVT>E<EGS------GEKVLQDDEFTCDLFRFLQLL | 3846 |
RYR3 | SLSGLMQSCSVLDLNAFERQNKAEGLGMVT>E<EGTLIVRERGEKVLQNDEFTRDLFRFLQLL | 3742 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3860K | c.11578G>A | Putative Benign | rs199737015 | SIFT: Polyphen: benign |