No paralogue variants have been mapped to residue 301 for RYR1.
RYR1 | SHLRWGQPLRVRHVTTGQYLALTEDQGLVV>V<DASKAHTKATSFCFRI---SKEKLDVAPKR | 328 |
RYR2 | SHIRWGQPFRLRHVTTGKYLSLMEDKNLLL>M<DKEKADVKSTAFTFRS---SKEKLDVGVRK | 344 |
RYR3 | SNIRWGQAFRLRHLTTGHYLALTEDQGLIL>Q<DRAKSDTKSTAFSFRASKELKEKLDSSHKR | 336 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V301A | c.902T>C | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |