No paralogue variants have been mapped to residue 617 for RYR2.
RYR2 | NIIKEGHIKSIISLLDKHGRNHKVLDVLCS>L<CVCHGVAVRSNQHLICDNLLPGRDLLLQTR | 647 |
RYR1 | NIIQENHIKSIISLLDKHGRNHKVLDVLCS>L<CVCNGVAVRSNQDLITENLLPGRELLLQTN | 635 |
RYR3 | NLIAEGHIKSIISLLDKHGRNHKVLDILCS>L<CLCNGVAVRANQNLICDNLLPRRNLLLQTR | 634 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L617P | c.1850T>C | Putative Benign | SIFT: Polyphen: |