No paralogue variants have been mapped to residue 274 for RYR1.
RYR1 | VYYEGGAVCTHARSLWRLEPLRISWSGSHL>R<WGQPLRVRHVTTGQYLALTEDQGLVVVDAS | 304 |
RYR2 | VHYEGGAVSVHARSLWRLETLRVAWSGSHI>R<WGQPFRLRHVTTGKYLSLMEDKNLLLMDKE | 320 |
RYR3 | IFYEAGGAGTRARSLWRVEPLRISWSGSNI>R<WGQAFRLRHLTTGHYLALTEDQGLILQDRA | 309 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R274P | c.821G>C | Putative Benign | rs368711923 | SIFT: tolerated Polyphen: benign | |
p.R274G | c.820C>G | Putative Benign | SIFT: Polyphen: | ||
p.R274C | c.820C>T | Putative Benign | SIFT: Polyphen: | ||
p.R274H | c.821G>A | Putative Benign | SIFT: Polyphen: | ||
p.R274L | c.821G>T | Putative Benign | SIFT: Polyphen: |