No paralogue variants have been mapped to residue 279 for RYR2.
RYR2 | SGEHGEEQRRTVHYEGGAVSVHARSLWRLE>T<LRVAWSGSHIRWGQPFRLRHVTTGKYLSLM | 309 |
RYR1 | PAD-SDDQRRLVYYEGGAVCTHARSLWRLE>P<LRISWSGSHLRWGQPLRVRHVTTGQYLALT | 293 |
RYR3 | STDQNDSQHRRIFYEAGGAGTRARSLWRVE>P<LRISWSGSNIRWGQAFRLRHLTTGHYLALT | 298 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T279M | c.836C>T | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |