No paralogue variants have been mapped to residue 4327 for RYR2.
RYR2 | FVASVFRGFFRIICSLLLGGSLVEGAKKIK>V<AELLANMPDPTQDEVRGDGEEGERKP-LEA | 4356 |
RYR1 | AGAGAAAGALGLLWGSLFGGGLVEGAKKVT>V<TELLAGMPDPTSDEVHGEQPAGPGGDADGE | 4406 |
RYR3 | LLFTILGGIFQILWSTVFGGGLVEGAKNIR>V<TKILGDMPDPTQFGIHDDTMEAERAEVMEP | 4258 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4327L | c.12979G>C | Putative Benign | SIFT: Polyphen: |