No paralogue variants have been mapped to residue 35 for RYR1.
RYR1 | -GEDEVQFLRTDDEVVLQCSATVLKEQLKL>C<LAAEGFGNRLCFLEPTSNAQNVPPDLAICC | 65 |
RYR2 | -GEDEIQFLRTDDEVVLQCTATIHKEQQKL>C<LAAEGFGNRLCFLESTSNSKNVPPDLSICT | 66 |
RYR3 | GGEDEIQFLRTEDEVVLQCIATIHKEQRKF>C<LAAEGLGNRLCFLEPTSEAKYIPPDLCVCN | 67 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C35R | c.103T>C | Other Myopathy | rs193922747 | SIFT: Polyphen: | |
Reports | Other Myopathy | Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. Anesthesiology. 1997 86(3):620-6. 9066328 | |||
Other Myopathy | Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation "hot spot" loop. Proc Natl Acad Sci U S A. 2009 106(27):11040-4. doi: 10.1073/pnas.0905186106. 19541610 | ||||
Other Myopathy | Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013 4:1506. doi: 10.1038/ncomms2501. 23422674 | ||||
Other Myopathy | Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem. 1997 272(42):26332-9. 9334205 | ||||
Other Myopathy | Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J Biol Chem. 1999 274(2):693-702. 9873004 |