No paralogue variants have been mapped to residue 4886 for RYR1.
RYR1 | AFNFFRKFYNKSEDEDEPDMKCDDMMTCYL>F<HMYVGVRAGGGIGDEIEDPAGDEYELYRVV | 4916 |
RYR2 | AFNFFRKFYNKSEDGDTPDMKCDDMLTCYM>F<HMYVGVRAGGGIGDEIEDPAGDEYEIYRII | 4845 |
RYR3 | AFNFFRKFYNKSEDDDEPDMKCDDMMTCYL>F<HMYVGVRAGGGIGDEIEDPAGDPYEMYRIV | 4748 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4886L | c.14658T>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935 |