Paralogue Annotation for RYR1 residue 4856

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4856
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4856

No paralogue variants have been mapped to residue 4856 for RYR1.



RYR1TILSSVTHNGKQLVMTVGLLAVVVYLYTVV>A<FNFFRKFYNKSEDEDEPDMKCDDMMTCYLF4886
RYR2TILSSVTHNGKQLVLTVGLLAVVVYLYTVV>A<FNFFRKFYNKSEDGDTPDMKCDDMLTCYMF4815
RYR3TILSSVTHNGKQLVLTVGLLAVVVYLYTVV>A<FNFFRKFYNKSEDDDEPDMKCDDMMTCYLF4718
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4856Gc.14567C>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943