No paralogue variants have been mapped to residue 3321 for RYR2.
RYR2 | DEGAWMKRLAVFSQPIINKVKPQLLKTHFL>P<LMEKLKKKAATVVSEEDHLKAEARGDMSEA | 3351 |
RYR1 | DEASWMKRLAVFAQPIVSRARPELLQSHFI>P<TIGRLRKRAGKVVSEEEQLRLEAKAEAQEG | 3390 |
RYR3 | DEASWMKRIAVYAQPIISKARPDLLRSHFI>P<TLEKLKKKAVKTVQEEEQLKADGKGDTQEA | 3247 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P3321L | c.9962C>T | Putative Benign | SIFT: Polyphen: |