No paralogue variants have been mapped to residue 312 for RYR1.
RYR1 | RHVTTGQYLALTEDQGLVVVDASKAHTKAT>S<FCFRI---SKEKLDVAPKRDVEGMGPPEIK | 339 |
RYR2 | RHVTTGKYLSLMEDKNLLLMDKEKADVKST>A<FTFRS---SKEKLDVGVRKEVDGMGTSEIK | 355 |
RYR3 | RHLTTGHYLALTEDQGLILQDRAKSDTKST>A<FSFRASKELKEKLDSSHKRDIEGMGVPEIK | 347 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S312P | c.934T>C | Putative Benign | SIFT: Polyphen: |