Paralogue Annotation for RYR1 residue 2496

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2496
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2496

No paralogue variants have been mapped to residue 2496 for RYR1.



RYR1LVGIISLPLQIPTLGKDGALVQPKMSASFV>P<DHKASMVLFLDRVYGIENQDFLLHVLDVGF2526
RYR2LVGVISIAFQMPTIAKDGNVVEPDMSAGFC>P<DHKAAMVLFLDRVYGIEVQDFLLHLLEVGF2492
RYR3LVGIISIPLKLPSLNKDGSVSEPDMAANFC>P<DHKAPMVLFLDRVYGIKDQTFLLHLLEVGF2389
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2496Lc.7487C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
Other Myopathy Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946
p.Pro2496Argc.7487C>G UnknownSIFT:
Polyphen: