No paralogue variants have been mapped to residue 1044 for RYR2.
RYR2 | QGWTYGIQQDVKNRRNPRLVPYTLLDDRTK>K<SNKDSLREAVRTLLGYGYNLEAPDQDHAAR | 1074 |
RYR1 | QGWSYSAVQDIPARRNPRLVPYRLLDEATK>R<SNRDSLCQAVRTLLGYGYNIEPPDQEP-SQ | 1061 |
RYR3 | QGWTYGIQQDLKNKRNPRLVPYALLDERTK>K<SNRDSLREAVRTFVGYGYNIEPSDQEL-AD | 1060 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1044T | c.3131A>C | Unknown | SIFT: Polyphen: probably damaging |