No paralogue variants have been mapped to residue 565 for RYR2.
RYR2 | ELLAALIRGNRKNCAQFSGSLDWLISRLER>L<EASSGILEVLHCVLVESPEALNIIKEGHIK | 595 |
RYR1 | ELLASLIRGNRSNCALFSTNLDWLVSKLDR>L<EASSGILEVLYCVLIESPEVLNIIQENHIK | 583 |
RYR3 | KLLAALIRGNRNNCAQFSNNLDWLISKLDR>L<ESSSGILEVLHCILTESPEALNLIAEGHIK | 582 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L565V | c.1693C>G | Putative Benign | SIFT: Polyphen: |