No paralogue variants have been mapped to residue 4856 for RYR1.
RYR1 | TILSSVTHNGKQLVMTVGLLAVVVYLYTVV>A<FNFFRKFYNKSEDEDEPDMKCDDMMTCYLF | 4886 |
RYR2 | TILSSVTHNGKQLVLTVGLLAVVVYLYTVV>A<FNFFRKFYNKSEDGDTPDMKCDDMLTCYMF | 4815 |
RYR3 | TILSSVTHNGKQLVLTVGLLAVVVYLYTVV>A<FNFFRKFYNKSEDDDEPDMKCDDMMTCYLF | 4718 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4856G | c.14567C>G | Other Myopathy | rs193922880 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 |