No paralogue variants have been mapped to residue 4826 for RYR1.
| RYR1 | YMVMSLLGHYNNFFFAAHLLDIAMGVKTLR>T<ILSSVTHNGKQLVMTVGLLAVVVYLYTVVA | 4856 |
| RYR2 | YMTMSVLGHYNNFFFAAHLLDIAMGFKTLR>T<ILSSVTHNGKQLVLTVGLLAVVVYLYTVVA | 4785 |
| RYR3 | YTTMSVLGHYNNFFFAAHLLDIAMGFKTLR>T<ILSSVTHNGKQLVLTVGLLAVVVYLYTVVA | 4688 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T4826I | c.14477C>T | Other Myopathy | rs121918595 | SIFT: Polyphen: | |
| Reports | Other Myopathy | A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet. 2000 9(10):1515-24. 10888602 | |||
| Other Myopathy | Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156 | ||||
| Other Myopathy | Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA. Anesthesiology. 2010 112(6):1350-4. doi: 10.1097/ALN.0b013e3181d69283. 20461000 | ||||
| Other Myopathy | Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage. FASEB J. 2012 26(3):1311-22. doi: 10.1096/fj.11-197582. 22131268 | ||||
| Other Myopathy | Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. J Biol Chem. 2012 287(4):2863-76. doi: 10.1074/jbc.M111.307926. 22139840 | ||||
| Other Myopathy | Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem. 2003 278(28):25722-30. 12732639 | ||||
| p.T4826P | c.14476A>C | Putative Benign | SIFT: Polyphen: | ||