No paralogue variants have been mapped to residue 637 for RYR1.
RYR1 | VCNGVAVRSNQDLITENLLPGRELLLQTNL>I<NYVTSIRPNIFVGRAEGTTQYSKWYFEVMV | 667 |
RYR2 | VCHGVAVRSNQHLICDNLLPGRDLLLQTRL>V<NHVSSMRPNIFLGVSEGSAQYKKWYYELMV | 679 |
RYR3 | LCNGVAVRANQNLICDNLLPRRNLLLQTRL>I<NDVTSIRPNIFLGVAEGSAQYKKWYFELII | 666 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I637V | c.1909A>G | Putative Benign | SIFT: tolerated Polyphen: benign |