No paralogue variants have been mapped to residue 4324 for RYR2.
RYR2 | LLHFVASVFRGFFRIICSLLLGGSLVEGAK>K<IKVAELLANMPDPTQDEVRGDGEEGERKP- | 4353 |
RYR1 | AGAAGAGAAAGALGLLWGSLFGGGLVEGAK>K<VTVTELLAGMPDPTSDEVHGEQPAGPGGDA | 4403 |
RYR3 | LFQLLFTILGGIFQILWSTVFGGGLVEGAK>N<IRVTKILGDMPDPTQFGIHDDTMEAERAEV | 4255 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K4324N | c.12972G>T | Unknown | SIFT: Polyphen: benign |