No paralogue variants have been mapped to residue 1043 for RYR2.
RYR2 | RQGWTYGIQQDVKNRRNPRLVPYTLLDDRT>K<KSNKDSLREAVRTLLGYGYNLEAPDQDHAA | 1073 |
RYR1 | GQGWSYSAVQDIPARRNPRLVPYRLLDEAT>K<RSNRDSLCQAVRTLLGYGYNIEPPDQEP-S | 1060 |
RYR3 | KQGWTYGIQQDLKNKRNPRLVPYALLDERT>K<KSNRDSLREAVRTFVGYGYNIEPSDQEL-A | 1059 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Lys1043Arg | c.3128A>G | Unknown | SIFT: Polyphen: |