No paralogue variants have been mapped to residue 4881 for RYR1.
RYR1 | LYTVVAFNFFRKFYNKSEDEDEPDMKCDDM>M<TCYLFHMYVGVRAGGGIGDEIEDPAGDEYE | 4911 |
RYR2 | LYTVVAFNFFRKFYNKSEDGDTPDMKCDDM>L<TCYMFHMYVGVRAGGGIGDEIEDPAGDEYE | 4840 |
RYR3 | LYTVVAFNFFRKFYNKSEDDDEPDMKCDDM>M<TCYLFHMYVGVRAGGGIGDEIEDPAGDPYE | 4743 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4881L | c.14641A>T | Putative Benign | rs373387527 | SIFT: tolerated Polyphen: benign | |
p.M4881I | c.14643G>T | Putative Benign | rs376677576 | SIFT: deleterious Polyphen: benign | |
p.M4881I | c.14643G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. J Hum Genet. 2016 61(6):497-505. doi: 10.1038/jhg.2016.2. 26841830 |