No paralogue variants have been mapped to residue 3407 for RYR1.
RYR1 | EQLRLEAKAEAQEGELLVRDEFSVLCRDLY>A<LYPLLIRYVDNNRAQWLTEPNPSAEELFRM | 3437 |
RYR2 | DHLKAEARGDMSEAELLILDEFTTLARDLY>A<FYPLLIRFVDYNRAKWLKEPNPEAEELFRM | 3398 |
RYR3 | EQLKADGKGDTQEAELLILDEFAVLCRDLY>A<FYPMLIRYVDNNRSNWLKSPDADSDQLFRM | 3294 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A3407T | c.10219G>A | Other Disease Phenotype | rs143533100 | SIFT: Polyphen: benign | |
Reports | Other Disease Phenotype | RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145 | |||
p.A3407S | c.10219G>T | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene. Intern Med J. 2014 44(8):819-20. doi: 10.1111/imj.12498. 25081049 |