No paralogue variants have been mapped to residue 1480 for RYR1.
RYR1 | GWVTPDYHQHDMSFDLSKVRVVTVTMGDEQ>G<NVHSSLKCSNCYMVWGGDFVSPGQQGRISH | 1510 |
RYR2 | GWITSDFHQYDTGFDLDRVRTVTVTLGDEK>G<KVHESIKRSNCYMVCAGESMSPGQ-G-RNN | 1502 |
RYR3 | GWVTPDYHLYSEKFDLNKNCTVTVTLGDER>G<RVHESVKRSNCYMVWGGDIVASSQRSNRSN | 1406 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1480S | c.4438G>A | Putative Benign | SIFT: Polyphen: |