No paralogue variants have been mapped to residue 4809 for RYR1.
RYR1 | WKFGVIFTDNSFLYLGWYMVMSLLGHYNNF>F<FAAHLLDIAMGVKTLRTILSSVTHNGKQLV | 4839 |
RYR2 | WKLGVVFTDNSFLYLAWYMTMSVLGHYNNF>F<FAAHLLDIAMGFKTLRTILSSVTHNGKQLV | 4768 |
RYR3 | WKLGVVFTDNSFLYLAWYTTMSVLGHYNNF>F<FAAHLLDIAMGFKTLRTILSSVTHNGKQLV | 4671 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4809L | c.14427C>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J Med Genet. 2015 52(3):208-16. doi: 10.1136/jmedgenet-2014-102819. 25635128 |