No paralogue variants have been mapped to residue 4882 for RYR1.
RYR1 | YTVVAFNFFRKFYNKSEDEDEPDMKCDDMM>T<CYLFHMYVGVRAGGGIGDEIEDPAGDEYEL | 4912 |
RYR2 | YTVVAFNFFRKFYNKSEDGDTPDMKCDDML>T<CYMFHMYVGVRAGGGIGDEIEDPAGDEYEI | 4841 |
RYR3 | YTVVAFNFFRKFYNKSEDDDEPDMKCDDMM>T<CYLFHMYVGVRAGGGIGDEIEDPAGDPYEM | 4744 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T4882M | c.14645C>T | Other Myopathy | rs193922884 | SIFT: Polyphen: | |
Reports | Other Myopathy | Novel RYR1 missense mutation causes core rod myopathy. Eur J Neurol. 2008 15(4):e31-2. 18312400 |