No paralogue variants have been mapped to residue 4344 for RYR2.
RYR2 | LGGSLVEGAKKIKVAELLANMPDPTQDEVR>G<DGEEGERKP-LEAALPSEDLTDLKELTEES | 4373 |
RYR1 | FGGGLVEGAKKVTVTELLAGMPDPTSDEVH>G<EQPAGPGGDADGEGASEGAGDAAEGAGDEE | 4423 |
RYR3 | FGGGLVEGAKNIRVTKILGDMPDPTQFGIH>D<DTMEAERAEVMEPGITTELVHFIKGEKGDT | 4275 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4344E | c.13031G>A | Putative Benign | rs376433496 | SIFT: tolerated Polyphen: benign |