No paralogue variants have been mapped to residue 1246 for RYR1.
RYR1 | CGLQEGFEPFAINMQRPVTTWFSKGLPQFE>P<VPLEHPHYEVSRVDGTVDTPPCLRLTHRTW | 1276 |
RYR2 | CGLQEGYEPFAVNTNRDITMWLSKRLPQFL>Q<VPSNHEHIEVTRIDGTIDSSPCLKVTQKSF | 1290 |
RYR3 | CGLQEGFEPFAVNMNRDVAMWFSKRLPTFV>N<VPKDHPHIEVMRIDGTMDSPPCLKVTHKTF | 1276 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1246S | c.3736C>T | Putative Benign | rs372065867 | SIFT: tolerated Polyphen: benign |