No paralogue variants have been mapped to residue 317 for RYR2.
RYR2 | SHIRWGQPFRLRHVTTGKYLSLMEDKNLLL>M<DKEKADVKSTAFTFRS---SKEKLDVGVRK | 344 |
RYR1 | SHLRWGQPLRVRHVTTGQYLALTEDQGLVV>V<DASKAHTKATSFCFRI---SKEKLDVAPKR | 328 |
RYR3 | SNIRWGQAFRLRHLTTGHYLALTEDQGLIL>Q<DRAKSDTKSTAFSFRASKELKEKLDSSHKR | 336 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M317T | c.950T>C | Putative Benign | rs367601258 | SIFT: tolerated Polyphen: benign | |
p.M317V | c.949A>G | Putative Benign | SIFT: Polyphen: |