No paralogue variants have been mapped to residue 4341 for RYR2.
RYR2 | SLLLGGSLVEGAKKIKVAELLANMPDPTQD>E<VRGDGEEGERKP-LEAALPSEDLTDLKELT | 4370 |
RYR1 | GSLFGGGLVEGAKKVTVTELLAGMPDPTSD>E<VHGEQPAGPGGDADGEGASEGAGDAAEGAG | 4420 |
RYR3 | STVFGGGLVEGAKNIRVTKILGDMPDPTQF>G<IHDDTMEAERAEVMEPGITTELVHFIKGEK | 4272 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4341A | c.13022A>C | Putative Benign | SIFT: Polyphen: |