Paralogue Annotation for RYR1 residue 4230

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4230
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4230

No paralogue variants have been mapped to residue 4230 for RYR1.



RYR1NRAQWEMPQVKESKRQFIFDVVNEGGEAEK>M<ELFVSFCEDTIFEMQIAAQISEPEGEPETD4260
RYR2SRTQWEKPQVKESKRQFIFDVVNEGGEKEK>M<ELFVNFCEDTIFEMQLAAQISESDLNERSA4216
RYR3SRTQWEKPQVKESKRQFIFDVVNEGGEQEK>M<ELFVNFCEDTIFEMQLASQISESDSADRPE4112
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M4230Vc.12688A>G Putative BenignSIFT:
Polyphen:
p.M4230Rc.12689T>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027