No paralogue variants have been mapped to residue 295 for RYR2.
RYR2 | GAVSVHARSLWRLETLRVAWSGSHIRWGQP>F<RLRHVTTGKYLSLMEDKNLLLMDKEKADVK | 325 |
RYR1 | GAVCTHARSLWRLEPLRISWSGSHLRWGQP>L<RVRHVTTGQYLALTEDQGLVVVDASKAHTK | 309 |
RYR3 | GGAGTRARSLWRVEPLRISWSGSNIRWGQA>F<RLRHLTTGHYLALTEDQGLILQDRAKSDTK | 314 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F295S | c.884T>C | Putative Benign | SIFT: Polyphen: |