No paralogue variants have been mapped to residue 1482 for RYR1.
RYR1 | VTPDYHQHDMSFDLSKVRVVTVTMGDEQGN>V<HSSLKCSNCYMVWGGDFVSPGQQGRISHTD | 1512 |
RYR2 | ITSDFHQYDTGFDLDRVRTVTVTLGDEKGK>V<HESIKRSNCYMVCAGESMSPGQ-G-RNNNG | 1504 |
RYR3 | VTPDYHLYSEKFDLNKNCTVTVTLGDERGR>V<HESVKRSNCYMVWGGDIVASSQRSNRSNVD | 1408 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1482I | c.4444G>A | Putative Benign | SIFT: Polyphen: |