No paralogue variants have been mapped to residue 4328 for RYR2.
RYR2 | VASVFRGFFRIICSLLLGGSLVEGAKKIKV>A<ELLANMPDPTQDEVRGDGEEGERKP-LEAA | 4357 |
RYR1 | GAGAAAGALGLLWGSLFGGGLVEGAKKVTV>T<ELLAGMPDPTSDEVHGEQPAGPGGDADGEG | 4407 |
RYR3 | LFTILGGIFQILWSTVFGGGLVEGAKNIRV>T<KILGDMPDPTQFGIHDDTMEAERAEVMEPG | 4259 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4328V | c.12983C>T | Putative Benign | SIFT: Polyphen: |