No paralogue variants have been mapped to residue 378 for RYR2.
RYR2 | GMGTSEIKYGDSVCYIQHVDTGLWLTYQSV>D<VKSVRMGSIQRKAIMHHEGHMDDGISLSRS | 408 |
RYR1 | GMGPPEIKYGESLCFVQHVASGLWLTYAAP>D<PKALRLGVLKKKAMLHQEGHMDDALSLTRC | 392 |
RYR3 | GMGVPEIKYGDSVCFVQHIASGLWVTYKAQ>D<AKTSRLGPLKRKVILHQEGHMDDGLTLQRC | 400 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D378A | c.1133A>C | Putative Benign | SIFT: Polyphen: |