No paralogue variants have been mapped to residue 647 for RYR2.
RYR2 | LCVCHGVAVRSNQHLICDNLLPGRDLLLQT>R<LVNHVSSMRPNIFLGVSEGSAQYKKWYYEL | 677 |
RYR1 | LCVCNGVAVRSNQDLITENLLPGRELLLQT>N<LINYVTSIRPNIFVGRAEGTTQYSKWYFEV | 665 |
RYR3 | LCLCNGVAVRANQNLICDNLLPRRNLLLQT>R<LINDVTSIRPNIFLGVAEGSAQYKKWYFEL | 664 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R647C | c.1939C>T | Benign | rs202040519 | SIFT: deleterious Polyphen: possibly damaging | |
p.R647H | c.1940G>A | Putative Benign | SIFT: Polyphen: |