No paralogue variants have been mapped to residue 4860 for RYR1.
RYR1 | SVTHNGKQLVMTVGLLAVVVYLYTVVAFNF>F<RKFYNKSEDEDEPDMKCDDMMTCYLFHMYV | 4890 |
RYR2 | SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF>F<RKFYNKSEDGDTPDMKCDDMLTCYMFHMYV | 4819 |
RYR3 | SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF>F<RKFYNKSEDDDEPDMKCDDMMTCYLFHMYV | 4722 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4860V | c.14578T>G | Other Myopathy | rs193922881 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 |