No paralogue variants have been mapped to residue 1890 for RYR1.
RYR1 | KQILKMIEPEVFTEEEEEEDEEEEGEEEDE>E<EKEEDEEETAQEKEDEEKEEEEAAEGEKEE | 1920 |
RYR2 | KHILQLIEPSVFKEAATPEEESDTL--E-K>-<--ELS----VDDAK-LQGAGEE--EAKGGK | 1887 |
RYR3 | RQILLLIDPSVFGEHSAGTEEGAEK--E-E>-<--VTQ----VEEKA-VEAG-----EKAGKE | 1788 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1890D | c.5670G>T | Putative Benign | SIFT: Polyphen: |