Paralogue Annotation for RYR1 residue 35

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 35
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 35

No paralogue variants have been mapped to residue 35 for RYR1.



RYR1-GEDEVQFLRTDDEVVLQCSATVLKEQLKL>C<LAAEGFGNRLCFLEPTSNAQNVPPDLAICC65
RYR2-GEDEIQFLRTDDEVVLQCTATIHKEQQKL>C<LAAEGFGNRLCFLESTSNSKNVPPDLSICT66
RYR3GGEDEIQFLRTEDEVVLQCIATIHKEQRKF>C<LAAEGLGNRLCFLEPTSEAKYIPPDLCVCN67
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C35Rc.103T>C Other MyopathySIFT:
Polyphen:
ReportsOther 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