No paralogue variants have been mapped to residue 1892 for RYR1.
RYR1 | ILKMIEPEVFTEEEEEEDEEEEGEEEDEEE>K<EEDEEETAQEKEDEEKEEEEAAEGEKEEGL | 1922 |
RYR2 | ILQLIEPSVFKEAATPEEESDTL--E-K-->-<ELS----VDDAK-LQGAGEE--EAKGGKRP | 1889 |
RYR3 | ILLLIDPSVFGEHSAGTEEGAEK--E-E-->-<VTQ----VEEKA-VEAG-----EKAGKEAP | 1790 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1892E | c.5674A>G | Putative Benign | SIFT: Polyphen: |