No paralogue variants have been mapped to residue 280 for RYR2.
RYR2 | GEHGEEQRRTVHYEGGAVSVHARSLWRLET>L<RVAWSGSHIRWGQPFRLRHVTTGKYLSLME | 310 |
RYR1 | AD-SDDQRRLVYYEGGAVCTHARSLWRLEP>L<RISWSGSHLRWGQPLRVRHVTTGQYLALTE | 294 |
RYR3 | TDQNDSQHRRIFYEAGGAGTRARSLWRVEP>L<RISWSGSNIRWGQAFRLRHLTTGHYLALTE | 299 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Leu280Pro | c.839T>C | Unknown | SIFT: Polyphen: |