No paralogue variants have been mapped to residue 599 for RYR1.
RYR1 | ESPEVLNIIQENHIKSIISLLDKHGRNHKV>L<DVLCSLCVCNGVAVRSNQDLITENLLPGRE | 629 |
RYR2 | ESPEALNIIKEGHIKSIISLLDKHGRNHKV>L<DVLCSLCVCHGVAVRSNQHLICDNLLPGRD | 641 |
RYR3 | ESPEALNLIAEGHIKSIISLLDKHGRNHKV>L<DILCSLCLCNGVAVRANQNLICDNLLPRRN | 628 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L599V | c.1795C>G | Putative Benign | rs190885369 | SIFT: Polyphen: probably damaging |