No paralogue variants have been mapped to residue 2750 for RYR2.
RYR2 | FINKYAEHSHDKWSMDKLANGWIYGEIYSD>S<SKVQPLMKPYKLLSEKEKEIYRWPIKESLK | 2780 |
RYR1 | FINKFAEYTHEKWAFDKIQNNWSYGENIDE>E<LKTHPMLRPYKTFSEKDKEIYRWPIKESLK | 2814 |
RYR3 | IVTKYAEHSHDKWACDKSQSGWKYGISLDE>N<VKTHPLIRPFKTLTEKEKEIYRWPARESLK | 2677 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2750T | c.8248T>A | Putative Benign | SIFT: tolerated Polyphen: benign |