No paralogue variants have been mapped to residue 1005 for RYR1.
RYR1 | RLTPAQTTLVDRLAENGHNVWARDRVGQGW>S<YSAVQDIPARRNPRLVPYRLLDEATKRSNR | 1035 |
RYR2 | KLTPSQEAMVDKLAENAHNVWARDRIRQGW>T<YGIQQDVKNRRNPRLVPYTLLDDRTKKSNK | 1047 |
RYR3 | KLLPPQEILVDKLAENAHNVWAKDRIKQGW>T<YGIQQDLKNKRNPRLVPYALLDERTKKSNR | 1034 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1005N | c.3014G>A | Putative Benign | SIFT: Polyphen: |