No paralogue variants have been mapped to residue 275 for RYR1.
RYR1 | YYEGGAVCTHARSLWRLEPLRISWSGSHLR>W<GQPLRVRHVTTGQYLALTEDQGLVVVDASK | 305 |
RYR2 | HYEGGAVSVHARSLWRLETLRVAWSGSHIR>W<GQPFRLRHVTTGKYLSLMEDKNLLLMDKEK | 321 |
RYR3 | FYEAGGAGTRARSLWRVEPLRISWSGSNIR>W<GQAFRLRHLTTGHYLALTEDQGLILQDRAK | 310 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W275C | c.825G>T | Putative Benign | rs138687891 | SIFT: Polyphen: probably damaging | |
p.W275C | c.825G>C | Putative Benign | SIFT: Polyphen: |