No paralogue variants have been mapped to residue 600 for RYR1.
RYR1 | SPEVLNIIQENHIKSIISLLDKHGRNHKVL>D<VLCSLCVCNGVAVRSNQDLITENLLPGREL | 630 |
RYR2 | SPEALNIIKEGHIKSIISLLDKHGRNHKVL>D<VLCSLCVCHGVAVRSNQHLICDNLLPGRDL | 642 |
RYR3 | SPEALNLIAEGHIKSIISLLDKHGRNHKVL>D<ILCSLCLCNGVAVRANQNLICDNLLPRRNL | 629 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D600E | c.1800C>A | Putative Benign | SIFT: Polyphen: |