No paralogue variants have been mapped to residue 2780 for RYR1.
RYR1 | KLDSFINKFAEYTHEKWAFDKIQNNWSYGE>N<IDEELKTHPMLRPYKTFSEKDKEIYRWPIK | 2810 |
RYR2 | KLEYFINKYAEHSHDKWSMDKLANGWIYGE>I<YSDSSKVQPLMKPYKLLSEKEKEIYRWPIK | 2776 |
RYR3 | KLEYIVTKYAEHSHDKWACDKSQSGWKYGI>S<LDENVKTHPLIRPFKTLTEKEKEIYRWPAR | 2673 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N2780K | c.8340C>G | Unknown | SIFT: Polyphen: benign |