No paralogue variants have been mapped to residue 1462 for RYR2.
RYR2 | IFPGQEPANVWVGWITSDFHQYDTGFDLDR>V<RTVTVTLGDEKGKVHESIKRSNCYMVCAGE | 1492 |
RYR1 | VFAGQEPSCVWAGWVTPDYHQHDMSFDLSK>V<RVVTVTMGDEQGNVHSSLKCSNCYMVWGGD | 1498 |
RYR3 | IFAGQDPSCVWVGWVTPDYHLYSEKFDLNK>N<CTVTVTLGDERGRVHESVKRSNCYMVWGGD | 1394 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1462I | c.4384G>A | Putative Benign | SIFT: Polyphen: |