No paralogue variants have been mapped to residue 3380 for RYR1.
RYR1 | RPELLQSHFIPTIGRLRKRAGKVVSEEEQL>R<LEAKAEAQEGELLVRDEFSVLCRDLYALYP | 3410 |
RYR2 | KPQLLKTHFLPLMEKLKKKAATVVSEEDHL>K<AEARGDMSEAELLILDEFTTLARDLYAFYP | 3371 |
RYR3 | RPDLLRSHFIPTLEKLKKKAVKTVQEEEQL>K<ADGKGDTQEAELLILDEFAVLCRDLYAFYP | 3267 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3380H | c.10139G>A | Putative Benign | SIFT: Polyphen: |