No paralogue variants have been mapped to residue 3349 for RYR2.
RYR2 | FLPLMEKLKKKAATVVSEEDHLKAEARGDM>S<EAELLILDEFTTLARDLYAFYPLLIRFVDY | 3379 |
RYR1 | FIPTIGRLRKRAGKVVSEEEQLRLEAKAEA>Q<EGELLVRDEFSVLCRDLYALYPLLIRYVDN | 3418 |
RYR3 | FIPTLEKLKKKAVKTVQEEEQLKADGKGDT>Q<EAELLILDEFAVLCRDLYAFYPMLIRYVDN | 3275 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S3349T | c.10045T>A | Putative Benign | SIFT: Polyphen: | ||
p.Ser3349Leu | c.10046C>T | Unknown | SIFT: Polyphen: |