No paralogue variants have been mapped to residue 601 for RYR1.
RYR1 | PEVLNIIQENHIKSIISLLDKHGRNHKVLD>V<LCSLCVCNGVAVRSNQDLITENLLPGRELL | 631 |
RYR2 | PEALNIIKEGHIKSIISLLDKHGRNHKVLD>V<LCSLCVCHGVAVRSNQHLICDNLLPGRDLL | 643 |
RYR3 | PEALNLIAEGHIKSIISLLDKHGRNHKVLD>I<LCSLCLCNGVAVRANQNLICDNLLPRRNLL | 630 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V601L | c.1801G>T | Putative Benign | SIFT: Polyphen: |