Paralogue Annotation for RYR1 residue 2237

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2237
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2237

No paralogue variants have been mapped to residue 2237 for RYR1.



RYR1VMEVMVNVLGGGESKEIRFPKMVTSCCRFL>C<YFCRISRQNQRSMFDHLSYLLENSGIG--L2265
RYR2VMEVMVNVLGGGESKEITFPKMVANCCRFL>C<YFCRISRQNQKAMFDHLSYLLENSSVGLAS2231
RYR3VMEVMVNVLGT-EKSQIAFPKMVASCCRFL>C<YFCRISRQNQKAMFEHLSYLLENSSVGLAS2128
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C2237Yc.6710G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014 9(1):8. doi: 10.1186/1750-1172-9-8. 24433488