No paralogue variants have been mapped to residue 291 for RYR1.
RYR1 | LEPLRISWSGSHLRWGQPLRVRHVTTGQYL>A<LTEDQGLVVVDASKAHTKATSFCFRI---S | 318 |
RYR2 | LETLRVAWSGSHIRWGQPFRLRHVTTGKYL>S<LMEDKNLLLMDKEKADVKSTAFTFRS---S | 334 |
RYR3 | VEPLRISWSGSNIRWGQAFRLRHLTTGHYL>A<LTEDQGLILQDRAKSDTKSTAFSFRASKEL | 326 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A291V | c.872C>T | Putative Benign | rs200572262 | SIFT: Polyphen: possibly damaging |