No paralogue variants have been mapped to residue 1865 for RYR2.
RYR2 | EDLKHILQLIEPSVFKEAATPEEESDTL-->E<-K---ELS----VDDAK-LQGAGEE--EAK | 1884 |
RYR1 | EDVKQILKMIEPEVFTEEEEEEDEEEEGEE>E<DEEEKEEDEEETAQEKEDEEKEEEEAAEGE | 1917 |
RYR3 | DDVRQILLLIDPSVFGEHSAGTEEGAEK-->E<-E---VTQ----VEEKA-VEAG-----EKA | 1785 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1865K | c.5593G>A | Putative Benign | SIFT: tolerated Polyphen: benign |