No paralogue variants have been mapped to residue 1231 for RYR1.
RYR1 | LNLGQDVSSLRFFAICGLQEGFEPFAINMQ>R<PVTTWFSKGLPQFEPVPLEHPHYEVSRVDG | 1261 |
RYR2 | MNFGKDVSTLKYFTICGLQEGYEPFAVNTN>R<DITMWLSKRLPQFLQVPSNHEHIEVTRIDG | 1275 |
RYR3 | MNLGTDASTFKFYTMCGLQEGFEPFAVNMN>R<DVAMWFSKRLPTFVNVPKDHPHIEVMRIDG | 1261 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1231H | c.3692G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
p.R1231C | c.3691C>T | Putative Benign | SIFT: Polyphen: |