No paralogue variants have been mapped to residue 1006 for RYR2.
RYR2 | YKPAPMDLSFIKLTPSQEAMVDKLAENAHN>V<WARDRIRQGWTYGIQQDVKNRRNPRLVPYT | 1036 |
RYR1 | YKPAPLDLSHVRLTPAQTTLVDRLAENGHN>V<WARDRVGQGWSYSAVQDIPARRNPRLVPYR | 1024 |
RYR3 | YKPAPLDLSDVKLLPPQEILVDKLAENAHN>V<WAKDRIKQGWTYGIQQDLKNKRNPRLVPYA | 1023 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1006L | c.3016G>C | Putative Benign | rs376931962 | SIFT: tolerated Polyphen: possibly damaging |